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Showing all IthaGenes entries
| IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
|---|---|---|---|---|---|---|---|---|
| 3523 | rs7138216 | N/A | NC_000012.12:g.4225142G>C | RPL18P9-CCND2-AS1 | Modifier | Abnormal red blood cell count | ||
| 3524 | rs16887645 | N/A | NC_000008.11:g.115685828C>A | TRPS1-LINC00536 | Modifier | Abnormal red blood cell count | 0 | |
| 2680 | rs270387 | N/A | NC_000006.12:g.7772759A>G | BMP6 | Modifier | Bacteremia | 0 | |
| 2681 | rs267188 | N/A | NC_000006.12:g.7840548T>A | BMP6 | Modifier | Bacteremia | 0 | |
| 2682 | rs408505 | N/A | NC_000006.12:g.7866194T>C | BMP6 | Modifier | Stroke, Bacteremia | 0 | |
| 2683 | rs449853 | N/A | NC_000006.12:g.7872119C>T | BMP6 | Modifier | Osteonecrosis/Avascular necrosis, Stroke, Bacteremia | 0 | |
| 2915 | -840 G>A (rs7438135) | N/A | NC_000004.12:g.69095621G>A | UGT2B7 | Modifier | Morphine glucuronidation | 0 | |
| 3108 | rs7118086 | N/A | NC_000011.10:g.5316981T>C | OR51B2 | Modifier | Hb F levels | 0 | |
| 3109 | rs6578603 | N/A | NC_000011.10:g.5321174C>T | OR51B2 | Modifier | Hb F levels | 0 | |
| 3110 | rs11036815 | N/A | NC_000011.10:g.5323451G>A | OR51B2 | Modifier | Hb F levels | 0 | |
| 3111 | rs6578605 | N/A | NC_000011.10:g.5328374A>G | OR51B2 | Modifier | Hb F levels | 0 | |
| 3190 | rs12793110 | N/A | NC_000011.10:g.5210335C>T | OR51V1-HBB | Modifier | Anaemia | 0 | |
| 3346 | rs7198458 | N/A | NC_000016.10:g.66924983T>G | RRAD | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | 0 | |
| 3350 | rs13291830 | N/A | NC_000009.12:g.137383374C>T | EXD3 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | 0 | |
| 3353 | rs28376707 | N/A | NC_000008.11:g.76851837C>T | ZFHX4 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | 0 | |
| 3354 | rs35495590 | N/A | NC_000007.14:g.23689312T>C | FAM221A | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | 0 | |
| 3356 | rs12366219 | N/A | NC_000011.10:g.124023412A>G | OR10G9 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | 0 | |
| 3357 | rs17160348 | N/A | NC_000019.10:g.8261982C>A | NC_000019.10:g.8261982C>G | NC_000019.10:g.8261982C>T | CERS4 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | 0 | |
| 3465 | rs2445284 | N/A | NC_000011.10:g.5008473C>T | OR51L1-OR51P1P | Modifier | Haemolytic anaemia | 0 | |
| 3470 | rs6778854 | N/A | NC_000003.12:g.546765A>G | CHL1-LINC01266 | Modifier | Acute chest syndrome | 0 | |
| 3481 | rs540006 | N/A | NG_029975.1:g.2726A>G | TGFA-ADD2 | Modifier | Pain | 0 | |
| 3492 | rs17084406 | N/A | NC_000004.12:g.54496017A>G | PDGFRA-KIT | Modifier | Abnormal red blood cell count | 0 | |
| 3191 | rs11036338 | N/A | NG_000007.3:g.76148C>G | OR51V1-HBB | Modifier | Anaemia | 76148 | |
| 3432 | Hkαα | N/A | N/A | α2, α1, α3.7 hybrid | Neutral | N/A | NG_000006.1 | |
| 2569 | ααα(anti-4.2) (Triplicated α (anti-4.2)) | N/A | NG_000006.1:g.(31957_31978)_(34525_34544)dup | α2 | Modifier | Anaemia | NG_000006.1 | |
| 3937 | 188.7 kb dup | N/A | NC_000016.10:g.62166_250991del | HS40, ζ, α2, α1, NPRL3, HBM | Modifier | N/A | NG_000006.1 | |
| 3938 | 120.5 kb dup | N/A | NC_000016.10:g.98546_219042del | HS40, ζ, α2, α1, NPRL3, HBM | Modifier | N/A | NG_000006.1 | |
| 3939 | ~274 kb dup | N/A | N/A | HS40, ζ, α2, α1, NPRL3, HBM, AXIN1 | Modifier | N/A | NG_000006.1 | |
| 4101 | αααα(165) | N/A | NC_000016.10:g.59867_224557dup | HS40, ζ, α2, α1, NPRL3, HBM | Modifier | N/A | NG_000006.1 | |
| 3396 | IVS I-113 C>A | Hb Beach Haven | HBA2:c.96-5C>A | α3.7 hybrid | Causative | Haemolytic anaemia | NG_000006.1 | |
| 2561 | ααα(anti-3.7) (Triplicated α (anti-3.7)) | N/A | NG_000006.1:g.34247_38050dup | α2, α1 | Modifier | α-thalassaemia, Anaemia | NG_000006.1 | |
| 2567 | BS duplication | N/A | NC_000016.10:g.(85585_100579)_ (360915_410354)dup | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
| 2568 | FD duplication | N/A | NC_000016.10:g.55826_(185840_187594)dup | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
| 2570 | Sardinian duplication | N/A | N/A | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
| 3265 | α-globin cluster triplication | N/A | NC_000016.10:g.(53322_113530)_(181203_206337)dup | HS40, ζ, α2, α1, HBM | Modifier | α-thalassaemia | NG_000006.1 | |
| 3948 | -α3.7αα (α triplication) | N/A | N/A | α2, α1, α3.7 hybrid | Modifier | α-thalassaemia | NG_000006.1 | |
| 4010 | αααα(anti-3.7) | N/A | N/A | α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
| 4014 | αααα(159) | N/A | NC_000016.10:g.(63142_63147)_(222524_222529)dup | ζ, α2, α1, NPRL3, HBM | Modifier | α-thalassaemia | NG_000006.1 | |
| 348 | -α3.7;CD 14 TGG>CGG | Hb Evanston | N/A | α1 or α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | |
| 400 | -α3.7;CD 109 CTG>CGG | Hb Suan Dok | N/A | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | |
| 410 | -α3.7;CD 125 CTG>CAG [Leu>Gln] | N/A | N/A | α1 or α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2244 | (αα)JM | N/A | NC_000016.10:48642_132584del | HS40, ζ, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2248 | (αα)Sco | N/A | NC_000016.10:g.(93618_93635)_(141631_141648)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2252 | --BR | N/A | NC_000016.10:g.11555_229482del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2268 | --BA | N/A | NC_000016.10:g.0_772369del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2555 | α12 (HBA2 gene conversion) | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 2562 | (αα)HS40del (deletion of HS-40 region, chr16:g.(?_103625)_(163701_193676)del [GRCh37(hg19)]) | N/A | NC_000016.10:g.(?_53625)_(113702_143677)del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3071 | --235 (--175) | N/A | NC_000016.10:g.10001_185264del | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3275 | (αα)ALT | N/A | NC_000016.10:g.113194_116554delins39 | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3292 | 15 kb deletion | N/A | NC_000016.10:g.172736_187935del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3296 | --GB | N/A | NC_000016.9:g.(161901_161910)_(178672_178681)del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3407 | (αα)JS | N/A | NC_000016.10:g.46628_126325del | HS40, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3588 | --OY | N/A | NC_000016.10:g.0_318541del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 3622 | --71.8 (71.8 Kb deletion) | N/A | NC_000016.10:g.138971_210817del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 3631 | -α3.7;CD 104 TGC>TAC | Hb Sallanches | N/A | α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | |
| 3663 | HS-40 deletion | N/A | NC_000016.10:g.(47217_113592)_(113687_143639)del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3711 | (αα)YD | N/A | NC_000016.10:g.94096_147948del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3821 | --196 | N/A | NC_000016.10:g.35880_(232158_243266)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3822 | --227 | N/A | NC_000016.10:g.35880_(262740_268502)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3886 | (αα)107kb deletion | N/A | NC_000016.10:g.44082_151511del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 3889 | (αα)Aurora Borealis | N/A | NC_000016.10:g.(48303_50379)_ (165612_167685)del | HS40, ζ, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3946 | 16 kb HS-40 deletion | N/A | NC_000016.10:g.100600_116678del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 3957 | 68.9 kb HS-40 deletion | N/A | NC_000016.10:g.52778_121630del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 4015 | --259 | N/A | NC_000016.10:g.27301_286500del | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 4058 | --FG | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4059 | --Sciacca | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4060 | --AG | N/A | NC_000016.10:g.10001_(284537_284542)del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 4061 | --Puglia | N/A | NC_000016.10:g.(54016_55432)_(220780_223388)del | HS40, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 4062 | 285 kb deletion | N/A | N/A | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4073 | (αα)FJ (--FJ) | N/A | NC_000016.10:g.39268_130758del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 4082 | --LAMPHUN (27 kb deletion with 9 bp insertion (Lamphun deletion)) | N/A | N/A | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 4090 | --Mococa (17 kb deletion) | N/A | NC_000016.10:g.(162059_162078)_(179126_179145)del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4095 | --Guigang (145 kb deletion) | N/A | NC_000016.10:g.127815_273190del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3070 | αααα282 (αααα222) | N/A | NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] | HS40, ζ, α2, α1, NPRL3 | Modifier | α-chain variant | NG_000006.1 | |
| 3076 | αααα391 | N/A | NC_000016.10:g.101440_492029dup | HS40, ζ, α2, α1, NPRL3 | Modifier | α-chain variant | NG_000006.1 | |
| 3433 | anti-Hkαα | N/A | N/A | α2, α1 | Neutral | N/A | NG_000006.1 | 0 |
| 306 | -α7.9 | N/A | NG_000006.1:g.28322_36260del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 307 | -α18 (18 kb deletion) | N/A | N/A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 316 | -(α)5.2 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 322 | --CI (28+ kb deletion.) | N/A | NC_000016.10:g.(158380_161516)_ (186053_?) | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 324 | --115 | N/A | NC_000016.10:g.(13158_13584)_(39907_41256)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 326 | --YEM | N/A | NG_000006.1:g.(16201_17547)_(41420_42633)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 329 | --KOL | N/A | NC_000016.10:g.(151719_151746)_(185067_185093)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 330 | --11.1 (11.1 kb deletion) | N/A | NG_000006.1:g.(31695_31724)_(42846_42867)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 331 | --OH | N/A | NC_000016.10:g.(149158_152418)_(249560_284571)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 332 | (αα)RA | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 333 | (αα)TI | N/A | NC_000016.10:g.10023_122854del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 334 | (αα)IJ | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 335 | (αα)CMO | N/A | NC_000016.10:g.10018_157684del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 336 | (αα)TAT | N/A | NC_000016.10:g.10020_152823del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 337 | (αα)MB | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 338 | (αα)IC | N/A | NC_000016.10:g.10018_131194delinsAC | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 339 | (αα)IdF | N/A | NC_000016.10:g.10020_154449del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2233 | -ζ | N/A | N/A | ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2234 | -α16.6 | N/A | NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv | ζ, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2235 | α-αΔ970 (970 bp deletion) | N/A | NG_000006.1:g.36599_37568delinsTAG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2236 | --DUTCH I | N/A | NG_000006.1:g.7622_41156del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2237 | --AW | N/A | NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2238 | --BGS | N/A | NC_000016.10:g.47749_179374del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2239 | --CAMPANIA | N/A | NC_000016.10:g.(8635_8924)_(39835_40133)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2240 | --FIL-2 (27.9 deletion) | N/A | NC_000016.10:g.156188_184103del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2241 | --ED | N/A | NC_000016.10:g.(110582_113386)_(187266_188773)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2242 | --GP | N/A | NC_000016.10:g.(43803_47123)_(187266_188649)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2243 | (αα)AS | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2245 | (αα)MM | N/A | NC_000016.10:g.(?_53322)_(141396_143702)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2246 | (αα)L | N/A | NC_000016.10:g.(?_55799)_(152345_162796)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2247 | (αα)SN | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2249 | (αα)ZW | N/A | NC_000016.10:g. 90778_106773del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2250 | (αα)RSR | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2251 | (αα)MCu | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2253 | --ZW | N/A | NC_000016.10:g.11555_229482del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2254 | --JY | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2255 | --LC | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2256 | --VR | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2257 | --JT | N/A | NC_000016.10:g.(44035_44092)_(312033_312090)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2258 | --AB | N/A | NC_000016.10:g.(?_55799)_(360870_410354)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2259 | --GZ | N/A | NC_000016.10:g.(?_53322)_(879639_910965)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2260 | Dutch II | N/A | NC_000016.10:g.(?_55799)_(284538_298092)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2261 | --MK | N/A | NC_000016.10:g.(113696_130566)_(298093_ 331093)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2262 | --80 | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2264 | --Brazil | N/A | NC_000016.10:g.(?_55799)_(986613_1063737)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2265 | --PV | N/A | NC_000016.10:g.(?_55799)_(1625950_1740473)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2266 | --HN | N/A | NC_000016.10:g.(?_55799)_(1923864_ 1939057)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2267 | --FT | N/A | NC_000016.10:g.(?_55799)_(1857769_1890275)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2269 | --TN | N/A | NC_000016.10:g.0_976709del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2270 | --BO | N/A | NC_000016.10:g.0_1896761del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2271 | --IM | N/A | NC_000016.10:g.0_2021644del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2272 | --LIN | N/A | NC_000016.10:g.0_2023655del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2273 | --GS | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3021 | --JAL | N/A | NC_000016.10:g.(149437_149482)_(179595_179654)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3022 | --LOD | N/A | NC_000016.10:g.(45349_45393)_(262286_262330)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3067 | --MEX1 | N/A | NG_000006.1:g.3(33114_33812)_(40649_42021)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3068 | --MEX2 | N/A | NC_000016.10:g.(113775_130542)_(208161_249560)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3074 | (αα)JX | N/A | NC_000016.10:g.113161_113902del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3142 | -α6.3 | N/A | NG_000006.1:g.31022_37366del6344 | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3215 | --Braz | N/A | NC_000016.10:g.(167305_169853)_(239884_271794)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3244 | −KOZANI | N/A | NC_000016.10:g.(113686_143638)_(407521_?)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3255 | --MEX3 | N/A | NC_000016.10:g.151479_182582del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3258 | --NFLD | N/A | NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3273 | --VS | N/A | NC_000016.10:g.(100364_105222)_(376261_986851)del | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3274 | --CBR | N/A | NC_000016.10:g.(?_53322)_(177893_179815)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3283 | --JS | N/A | NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3284 | --PG | N/A | NC_000016.10:g.93628_542759del450131 | HS40, ζ, α2, α1, NPRL3, HBM, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3293 | 97 kb deletion | N/A | NC_000016.10:g.56407_153678del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3295 | 225 kb deletion | N/A | NC_000016.10:g.56407_281805del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3327 | --GX | N/A | NC_000016.10:g.(41492_43628)_(247888_254167)del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3440 | -αMAL3.5 | N/A | NG_000006.1:g.32745_36301del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3514 | 170 kb deletion | N/A | N/A | α2, α1, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 327 | --MC | N/A | NC_000016.10:g.139301_182501del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 164 |
| 3607 | 63 Kb deletion | N/A | NC_000016.10:g.(143655_149367)_(181204_206338)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 4518 |
| 3214 | 44.6 kb deletion | N/A | NC_000016.10:g.144215_188841del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 5078 |
| 3595 | --CR | Hb Chiang Rai | NC_000016.10:g.144215_188843del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 5078 |
| 2554 | -α28.5 | N/A | NG_000006.1g.7065_35627del28563 | ζ, α2 | Causative | α-thalassaemia | NG_000006.1 | 7065 |
| 4057 | --PA | N/A | NC_000016.10:g.(146281_146304)_(180074_180097)del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 7144 |
| 3408 | --60.2 | N/A | NC_000016.10:g.147589_207883del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8452 |
| 323 | --CAL | N/A | NG_000006.1:g.8464_40664del32201 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8464 |
| 313 | --MED II | N/A | NG_000006.1:g.(7740_9712)_(39907_41156)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8726 |
| 3020 | --DANE | N/A | NG_000006.1: g.8800_40007del31208 | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 8800 |
| 2232 | -α27.6 | N/A | NG_000006.1:g.9079_36718del27640 | ζ, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 9079 |
| 4110 | 146 kb deletion | N/A | NC_000016.10:g.148636_295089del | ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 9499 |
| 3963 | 32.8 kb deletion | N/A | NC_000016.10:g.149860_182697del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 10723 |
| 310 | --THAI | N/A | NC_000016.10:g.149863_183312del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 10726 |
| 325 | --RT | N/A | NC_000016.10:g.151401_188301del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12264 |
| 311 | --FIL | N/A | NC_000016.10:g.151641_182316del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12504 |
| 321 | --CL | N/A | NC_000016.10:g.152451_263801del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 13314 |
| 2475 | 21.9 kb deletion with 29 bp insertion (Qinzhou type deletion) | N/A | NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT] | ζ, α2 | Causative | α-thalassaemia | NG_000006.1 | 14373 |
| 4019 | 27.2 kb deletion (--27.2) | N/A | NC_00016.10:g.154539_181778delinsTAACA | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 15402 |
| 320 | --BRIT | N/A | NC_000016.10:g.155501_184801del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 16364 |
| 314 | -(α)20.5 | N/A | NG_000006.1:g.(18148_18200)_(37868_37901)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18200 |
| 319 | --MA | N/A | NG_000006.1:g.18964_39864del20901 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18964 |
| 315 | --SA | N/A | NC_000016.10:g.159052_182788delins139752_139596 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 19464 |
| 3947 | 27.3 kb deletion | N/A | NC_000016.10:g.158664_185974del | α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 19527 |
| 3294 | 22 kb deletion | N/A | NG_000006.1:g.20350_42078del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 20350 |
| 312 | --MED I | N/A | NG_000006.1:g.(23641_23662)_(41183_41203)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 23662 |
| 3945 | 15.8 kb deletion (NG_000006.1:g.24749_40631del) | N/A | NC_000016.10:g.163886_179768del | α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 24749 |
| 309 | --SEA | N/A | NC_000016.10:g.165401_184701del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 26264 |
| 3192 | rs141494605 | N/A | NG_000006.1:g.27457T>C | HBM | Modifier | Anaemia | NG_000006.1 | 27457 |
| 305 | -α5.3 | N/A | NG_000006.1:g.28684_33930del5246 | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 28684 |
| 328 | --CANT | N/A | NC_000016.10:g.(168531_169756)_(182770_183028)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29394 |
| 4020 | 14.9 kb deletion | N/A | NC_00016.10:g.168803_183737del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 29666 |
| 3603 | -α6.9 | N/A | NG_000006.1:g.29785_36746del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29785 |
| 318 | --SPAN | N/A | NC_000016.10:g.(169756_170100)_(179044_181595)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30619 |
| 301 | -α4.2 | N/A | NC_000016.10:g.169818_174075del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30681 |
| 3966 | 5.9 kb deletion | N/A | NG_000006.1:g.30779_36726del | α2 | Causative | α-thalassaemia | NG_000006.1 | 30779 |
| 3018 | --NOR | N/A | NC_000016.10:g.170694_184101del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 31577 |
| 4115 | 45.2 kb deletion | N/A | NC_000016.10:g.171252_216415del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 32115 |
| 3360 | 9.7 kb deletion | N/A | NG_000006.1:g.32709_42418del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32709 |
| 317 | --GEO | N/A | NG_000006.1:g.32864_42264del9401 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32864 |
| 3268 | 811 bp deletion | N/A | NG_000006.1:g.32945_33755 | α2 | Causative | α-thalassaemia | NG_000006.1 | 32945 |
| 3994 | 10.3 kb deletion | N/A | NC_000016.10:g.172342_182690del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33205 |
| 4083 | -(α)4.9 (4.9 Kb deletion) | N/A | NC_000016.10:g.172367_177259delinsG | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 33230 |
| 2988 | -54 G>A | N/A | HBA2:c.-91G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33685 |
| 2971 | -44 C>A | N/A | HBA2:c.-81C>A | α2 | Neutral | N/A | NG_000006.1 | 33695 |
| 2967 | -22 C>T | N/A | HBA2:c.-59C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33717 |
| 3785 | -6 G>C | N/A | HBA2:c.-43G>C | α2 | Neutral | N/A | NG_000006.1 | 33733 |
| 3725 | -4 G>C | N/A | HBA2:c.-41C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33735 |
| 3726 | Cap +11 T>A | N/A | HBA2:c.-27T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33749 |
| 2481 | CAP +14 C>G | N/A | HBA2:c.-24C>G | α2 | Neutral | N/A | NG_000006.1 | 33752 |
| 3727 | Cap +23 C>G | N/A | HBA2:c.-15C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33761 |
| 3728 | Cap +30 A>C | N/A | HBA2:c.-8A>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33768 |
| 346 | -α3.7;Init CD ACCATG>--CATG | N/A | NG_000006.1:g.[33773_33774del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33773, 34247 |
| 3051 | Init CD ACCATG>-CCATG | N/A | HBA2:c.-3delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 33773 |
| 344 | Init CD ATG>-TG | N/A | HBA2:c.1delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776 |
| 345 | -α3.7;Init CD ATG>GTG | N/A | NG_000006.1:g.[33776A>G;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776, 34247 |
| 3050 | Init CD ATG>TTG [Met>Leu] | N/A | HBA2:c.1A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
| 3604 | Init CD ATG>GTG [Met>Pro] | N/A | HBA2:c.1A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
| 342 | Init CD ATG>ACG [Met>Thr] | N/A | HBA2:c.2T>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
| 343 | Init CD ATG>A-G | N/A | HBA2:c.2delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
| 2460 | Init CD ATG>AGG [Met>Arg] | N/A | HBA2:c.2T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
| 3754 | Init CD ATG>AAG [Met>Lys] | N/A | HBA2:c.2T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33777 |
| 3564 | Init CD ATG>ATC [Met>Ile] | N/A | HBA2:c.3G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33778 |
| 3027 | Init CD ATG>ATT [Met>Ile] | Hb Valdecilla | HBA2:c.3G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33778 |
| 431 | CD 1 GTG>ATG [Val>Met] | Hb A2-Fontanabuona | HBA2:c.4G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33779 |
| 2306 | CD 1 GTG>CTG (Val>Leu) | Hb St. Josef | HBA2:c.4G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33779 |
| 4071 | CD 1 (-G) | N/A | HBA2:c.4del | α2 | Causative | α-thalassaemia | NG_000006.1 | 33779 |
| 432 | CD 1 GTG>GGG [Val>Gly] | Hb Antananarivo | HBA1:c.5T>G | HBA2:c.5T>G | α1, α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33780, 37584 |
| 433 | CD 1 GTG>GAG [Val>Glu] | Hb Thionville | HBA1:c.5T>A | HBA2:c.5T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33780, 37584 |
| 434 | CD 1 GTG>GCG [Val>Ala] | Hb Lyon-Bron | HBA2:c.5T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33780 |
| 3720 | CD 1/2 (+TG) | N/A | HBA2:c.6_7insTG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33781 |
| 2361 | CD 2 CTG>CCG [Leu>Pro] | Hb Kaiser West End | HBA2:c.8T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33783 |
| 436 | CD 3 TCT>CCT [Ser>Pro] | Hb Central Middlesex | HBA1:c.10T>C | HBA2:c.10T>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33785, 37589 |
| 2371 | CD 3 TCT>TGT [Ser>Cys] | Hb Teterboro | HBA2:c.11C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33786 |
| 2489 | CD 3 TCT>TAT [Ser>Tyr] | Hb Tallahassee | HBA2:c.11C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33786 |
| 438 | CD 4 CCT>CGT [Pro>Arg] | Hb Gorée | HBA2:c.14C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33789 |
| 439 | CD 4 CCT>CAT [Pro>His] | Hb Bellevue | HBA2:c.14C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33789 |
| 440 | CD 5 GCC>CCC [Ala>Pro] | Hb Karachi | HBA1:c.16G>C | HBA2:c.16G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33791, 37595 |
| 3983 | CD 5 GCC>ACC [Ala>Thr] | Hb Hengqin II | HBA2:c.16G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33791 |
| 443 | CD 6 GAC>AAC [Asp>Asn] | Hb Dunn | HBA1:c.19G>A | HBA2:c.19G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33794, 37598 |
| 445 | CD 6 GAC>CAC [Asp>His] | Hb Galliera II | HBA2:c.19G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33794 |
| 446 | CD 6 -GAC [-Asp] | Hb Boyle Heights | HBA1:c.19_21delGAC | HBA2:c.19_21delGAC | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33794, 37598 |
| 3038 | CD 6 GAC>TAC [Asp>Tyr] | Hb Woodville | HBA2:c.19G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33794 |
| 447 | CD 6 GAC>GGC [Asp>Gly] | Hb Swan River | HBA2:c.20A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33795 |
| 448 | CD 6 GAC>GTC [Asp>Val] | Hb Ferndown | HBA1:c.20A>T | HBA2:c.20A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33795, 37599 |
| 449 | CD 6 GAC>GCC [Asp>Ala] | Hb Sawara | HBA1:c.20A>C | HBA2:c.20A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33795, 37599 |
| 2383 | CD 7 AAG>CAG [Lys>Gln] | Hb J-Brainerd | HBA2:c.22A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33797 |
| 3762 | CD 7 AAG>GAG [Lys>Glu] | Hb Kurosaki | NM_000517.6(HBA2):c.22A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33797 |
| 2469 | CD 7 AAG>TAG | N/A | HBA2:c.22A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33797 |
| 451 | CD 7 AAG>AGG [Lys>Arg] | Hb Guanajuato | HBA2:c.23A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33798 |
| 2384 | CD 7 AAG>ACG [Lys>Thr] | Hb Nayarit | HBA2:c.23A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33798 |
| 452 | CD 7 AAG>AAC [Lys>Asn] | Hb Tatras | HBA1:c.24G>C | HBA2:c.24G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33799, 37603 |
| 2206 | CD 8 (-C) | N/A | HBA2:c.27delC | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33802 |
| 4011 | CD 9 AAC>TAC [Asn>Tyr] | N/A | HBA2:c.28A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33803 |
| 454 | CD 9 AAC>AGC [Asn>Ser] | Hb Zurich-Hottingen | HBA2:c.29A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33804 |
| 455 | CD 9 AAC>ACC [Asn>Thr] | Hb Broomfield | HBA1:c.29A>C | HBA2:c.29A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33804, 37608 |
| 457 | CD 9 AAC>AAG [Asn>Lys] | Hb Park Ridge | HBA2:c.30C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33805 |
| 3402 | CD 9 AAC>AAA [Asn>Lys] | Hb Zhaoqing | HBA2:c.30C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33805 |
| 3991 | CD 10 GTC>GAC [Val>Asp] | Hb Chumphae | HBA2:c.32T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33807 |
| 458 | CD 11 AAG>CAG [Lys>Gln] | Hb J-Wenchang-Wuming | HBA2:c.34A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33809 |
| 459 | CD 11 AAG>CAG [Lys>Glu] | Hb Anantharaj | HBA2:p.Lys12Glu | HBA1:p.Lys12Glu | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33809, 37613 |
| 3791 | CD 11 AAG>GAG [Lys>Glu] | Hb Arbresle | HBA2:c.34A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33809 |
| 3713 | CD 11 AAG>ACG [Lys>Thr] | N/A | HBA2:c.35A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33810 |
| 460 | CD 11 AAG>AAC or AAT [Lys>Asn] | Hb Albany-Suma | HBA1:c.36G>C | HBA1:c.36G>T | HBA2:c.36G>C | HBA2:c.36G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33811, 37615 |
| 2499 | CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur) | Hb J-Paris-I | HBA1:c.38C>A | α1 | Causative | α-chain variant | NG_000006.1 | 33813 |
| 462 | CD 13 GCC>CCC [Ala>Pro] | Hb Ravenscourt Park | HBA1:c.40G>C | HBA2:c.40G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33815, 37619 |
| 2433 | CD 13-14 -GCCTGG [-Ala-Trp] | Hb Souli | HBA2:c.40_45delGCCTGG | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33815 |
| 3599 | CD 13 GCC>TCC [Ala>Ser] | Hb Binyang | HBA2:c.40G>T | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 33815 |
| 2977 | CD 13 GCC>GAC [Ala>Asp] | Hb Little Waltham | HBA2:c.41C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33816 |
| 3984 | CD 13 GCC>GTC [Ala>Val] | Hb Huidong | HBA2:c.41C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33816 |
| 2348 | CD 14 TGG>TTG [Trp>Leu] | N/A | HBA2:c.44G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33819 |
| 3941 | CD 14 TGG>TCG [Trp>Ser] | Hb Jax | HBA2:c.44G>C | α2 | Causative | β-chain variant | NG_000006.1 | 33819 |
| 2518 | CD 14 TGG>TGA | N/A | HBA2:c.45G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33820 |
| 464 | CD 14 TGG>TGC [Trp>Cys] | Hb Bladensburg | HBA2:c.45G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33820 |
| 3761 | CD 15 GGT>CGT [Gly>Arg] | Hb Ottawa | HBA2:c.46G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33821 |
| 3841 | CD 15 GGT>AGT [Gly>Ser] | Hb Nanchang | HBA2:c.46G>A | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 33821 |
| 3916 | CD 15 GGT>TGT [Gly>Cys] | Hb Orbassano | HBA2:c.46G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33821 |
| 4024 | CD 15 (-GG, +C) | N/A | HBA2:c.46_47delinsC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33821 |
| 4063 | CD 15 (-G, +CC) | N/A | HBA2:c.47delinsCC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33822 |
| 3487 | CD 15 GGT>GTT [Gly>Val] | Hb Liaoning | HBA2:c.47G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33822 |
| 3714 | CD 15/16 (+T) | N/A | HBA2:c.48_49insT | α2 | Causative | α-thalassaemia | NG_000006.1 | 33823 |
| 3623 | CD 16 AAG>CAG [Lys>Gln] | Hb Heilongjiang | HBA2:c.49A>C | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33824 |
| 467 | CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas) | HbI | HBA2:c.49A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33824 |
| 469 | CD 16 AAG>ACG [Lys>Thr] | Hb Boa Esperanca | HBA2:c.50A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33825 |
| 470 | CD 16 AAG>AAT [Lys>Asn] | Hb Beijing | HBA2:c.51G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33826 |
| 3064 | CD 17 GTC>TTC [Val>Phe] | Hb Dapu | HBA2:c.52G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33827 |
| 2978 | CD 17 GTC>GAC [Val>Asp] | Hb Oxford | HBA2:c.53T>A | α2 | Causative | α-chain variant | NG_000006.1 | 33828 |
| 3885 | CD 17 (-C) (Hb Kunming) | N/A | HBA2:c.54delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33829 |
| 3037 | CD 18 GGC>CGC [Gly>Arg] | Hb Handsworth | HBA2:c.55G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33830 |
| 472 | CD 18 GGC>GAC [Gly>Asp] | Hb Al-Ain Abu Dhabi | HBA1:c.56G>A | HBA2:c.56G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33831, 37635 |
| 350 | CD 18 GGC>G-C | N/A | HBA2:c.56delG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33831 |
| 473 | CD 19 GCG>GAG [Ala>Glu] | Hb J-Tashikuergan | HBA2:c.59C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33834 |
| 474 | CD 19 GCG>GAY [Ala>Asp] | Hb J-Kurosh | HBA2:c.59_60delinsAY^HBA1:c.59_60delinsAY | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33834, 37638 |
| 3715 | CD 19 GCG>GTG [Ala>Val] | N/A | HBA2:c.59C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33834 |
| 2465 | CD 19 GCG>GC- | N/A | HBA2:c.60delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33835 |
| 475 | CD 20 CAC>TAC [His>Tyr] | Hb Necker Enfants-Malades | HBA1:c.61C>T | HBA2:c.61C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33836, 37640 |
| 476 | CD 20 CAC>GAC [His>Asp] | Hb Nikaia | HBA2:c.61C>G | α2 | Causative | α-chain variant | NG_000006.1 | 33836 |
| 478 | CD 20 CAC>CGC [His>Arg] | Hb Hobart | HBA1:c.62A>G | HBA2:c.62A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33837, 37641 |
| 3989 | CD 20 CAC>CTC [His>Leu] | Hb Hebei | HBA2: c.62A>T | α2 | Causative | α-chain variant | NG_000006.1 | 33837 |
| 479 | CD 20 CAC>CAA [His>Gln] | Hb Le Lamentin | HBA2:c.63C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33838 |
| 351 | CD 21 GCT>TCT [Ala>Ser] | Hb Zoetermeer | HBA2:c.64G>T | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33839 |
| 481 | CD 21 GCT>CCT [Ala>Pro] | Hb Fontainebleau | HBA2:c.64G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33839 |
| 2351 | CD 21 GCT>GTT [Ala>Val] | Hb Venetia | HBA2:c.65C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33840 |
| 2207 | CD 21/22 +T | N/A | HBA2:c.66dupT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33841 |
| 483 | CD 22 GGC>GAC [Gly>Asp] | Hb J-Medellin | HBA1:c.68G>A | HBA2:c.68G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33843, 37647 |
| 2438 | CD 22-26 (-9 bp) | Hb Zhanjiang | HBA2:c.69_77delCGAGTATGG | α2 | Causative | α-chain variant | NG_000006.1 | 33844 |
| 352 | CD 22 GGC>GGT new donor consensus | N/A | HBA2:c.69C>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33844 |
| 353 | CD 22 -C | N/A | HBA2:c.69delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33844 |
| 354 | CD 23 GAG>TAG [Glu>STOP] | N/A | HBA2:c.70G>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33845 |
| 3915 | -α3.7;CD 23 GAG>AAG | Hb Chad | NG_000006.1:g.34247_38050del;33845G>A | α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33845 |
| 484 | CD 23 GAG>CAG [Glu>Gln] | Hb Memphis | HBA2:c.70G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33845 |
| 485 | CD 23 GAG>AAG [Glu>Lys] (Hb E-Keelung) | Hb Chad | HBA2:c.70G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33845 |
| 486 | CD 23 GAG>GGG [Glu>Gly] | Hb Reims | HBA1:c.71A>G | HBA2:c.71A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33846, 37650 |
| 487 | CD 23 GAG>GTG [Glu>Val] | Hb G-Audhali | HBA1:c.71A>T | HBA2:c.71A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33846, 37650 |
| 2368 | CD 23 GAG>GCG [Glu>Ala] | Hb Dayton | HBA2:c.71A>C | α2 | Causative | α-chain variant | NG_000006.1 | 33846 |
| 488 | CD 23 GAG>GAT [Glu>Asp] | Hb Lisbon | HBA1:c.72G>T | HBA2:c.72G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33847, 37651 |
| 489 | CD 24 TAT>CAT [Tyr>His] | Hb Luxembourg | HBA1:c.73T>C | HBA2:c.73T>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33848, 37652 |
| 490 | CD 24 TAT>GAT [Tyr>Asp] | Hb Creve Coeur | HBA2:c.73T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33848 |
| 2208 | CD 24 TAT>TAG | N/A | HBA2:c.75T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33850 |
| 2488 | CD 24 TAT>TAA | N/A | HBA2:c.75T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33850 |
| 3985 | CD 25 GGT>AGT [Gly>Ser] | Hb Jinwan | HBA2:c.76G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33851 |
| 2538 | CD 25 GGT>GAT [Gly>Asp] | Hb Cibeles | HBA2:c.77G>A | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33852 |
| 355 | CD 26 GCG>ACG [Ala>Thr] | Hb Caserta | HBA2:c.79G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33854 |
| 3657 | CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro] | Hb Southern Italy | HBA2:c.[79G>A;391G>C] | α2 | Causative | α-thalassaemia | NG_000006.1 | 33854, 34425 |
| 493 | CD 26 GCG>GTG [Ala>Val] | Hb Campinas | HBA2:c.80C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33855 |
| 494 | CD GCG>GAG [Ala>Glu] | Hb Shenyang | HBA2:c.80C>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33855 |
| 495 | CD 27 GAG>AAG [Glu>Lys] | Hb Shuangfeng | HBA2:c.82G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33857 |
| 496 | CD 27 GAG>GGG [Glu>Gly] | Hb Fort Worth | HBA2:c.83A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33858 |
| 497 | CD 27 GAG>GTG [Glu>Val] | Hb Spanish Town | HBA2:c.83A>T | α2 | Causative | α-chain variant | NG_000006.1 | 33858 |
| 498 | CD 27 GAG>GCG [Glu>Ala] | Hb Hackney | HBA1:c.83A>C | HBA2:c.83A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33858, 37662 |
| 499 | CD 27 GAG>GAC [Glu>Asp] | Hb Hekinan | HBA2:c.84G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33859 |
| 3568 | CD 28 GCC>-CC | N/A | HBA2:c.85delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33860 |
| 356 | CD 29 CTG>CCG [Leu>Pro] | Hb Agrinio | HBA2:c.89T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33864 |
| 503 | CD 30 GAG>AAG [Glu>Lys] | Hb O-Padova | HBA2:c.91G>A | α2 | Causative | α-chain variant | NG_000006.1 | 33866 |
| 3766 | CD 30 GAG>CAG [Glu>Gln] | Hb G-Honolulu | HBA2:c.91G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33866 |
| 357 | CD 30 -GAG [-Glu] | N/A | HBA2:c.91_93delGAG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33866 |
| 365 | -α3.7;CD 31 AGG>--G | N/A | NG_000006.1:g.[33869_33870del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 33869, 34247 |
| 2210 | CD 31 AGG>CGG [Arg>Arg] | N/A | HBA2:c.94A>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33869 |
| 2487 | CD 31 AGG>GGG [Arg>Gly] | Hb Maranon | HBA2:c.94A>G | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33869 |
| 3217 | CD 31 AGG>TGG [Arg>Trp] | Hb Debao | HBA2:c.94A>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33869 |
| 366 | CD 31 AGG>AAG [Arg>Lys] | N/A | HBA2:c.95G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33870 |
| 2483 | IVS I-1 G>T | N/A | HBA2:c.95+1G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
| 3745 | IVS I-1 G>A | N/A | HBA2:c.95+1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
| 359 | IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor (α-5nt) | N/A | HBA2:c.95+2_95+6delTGAGG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33872 |
| 360 | IVS I-5 G>A | N/A | HBA2:c.95+5 G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33875 |
| 4043 | IVS I-57 C>T | N/A | HBA2:c.95+7C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33877 |
| 3729 | IVS I-11 (-24bp) (Hb Qujing) | N/A | HBA2:c.95+11_95+34del | α2 | Causative | α-thalassaemia | NG_000006.1 | 33881 |
| 3033 | IVS I-27 C>T | N/A | HBA2:c.95+27C>T | α2 | Neutral | N/A | NG_000006.1 | 33897 |
| 3769 | IVS I-36 C>T | N/A | HBA2:c.95+36C>T | α2 | Neutral | N/A | NG_000006.1 | 33906 |
| 3770 | IVS I-39 C>T | N/A | HBA2:c.95+39C>T | α2 | Neutral | N/A | NG_000006.1 | 33909 |
| 362 | IVS I-55 G>A | N/A | HBA2:c.95+55 G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33925 |
| 3976 | IVS I-68 G>A | N/A | HBA2:c.96-50G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33938 |
| 3730 | IVS I-73 G>A | N/A | HBA2:c.96-45G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33943 |
| 3877 | IVS I-114 G>T | N/A | HBA2:c.96-4G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33984 |
| 363 | IVS I-116 GCAGGA>GCGGGA acceptor | N/A | HBA2:c.96-2A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33986 |
| 2957 | IVS I-117 G>A | N/A | HBA2:c.96-1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33987 |
| 506 | CD 31 AGG>AGC [Arg>Ser] | Hb Prato | HBA2:c.96G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33988 |
| 2209 | CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía) | Hb Rotterdam | HBA2:c.98T>G | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33990 |
| 367 | CD 32 G>A | Hb Amsterdam | HBA2:c.99G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33991 |
| 3363 | CD 33 TTC>CTC [Phe>Leu] | Hb Worthing | HBA2:c.100T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33992 |
| 368 | CD 33 T>C | Hb Chartres | HBA2:c.101T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33993 |
| 3362 | CD 34 CTG>CCG [Leu>Pro] | Hb Bass Hill | HBA2:c.104T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33996 |
| 369 | CD 35 TCC>CCC [Ser>Pro] | Hb Evora | HBA2:c.106T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33998 |
| 511 | CD 35 TCC>TAC [Ser>Tyr] | Hb Shinagawa | HBA2:c.107C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33999 |
| 2999 | CD 35 TCC>TTC [Ser>Phe] | Hb Colorado | HBA2:c.107C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33999 |
| 512 | CD 36 TTC>CTC [Phe>Leu] | Hb Geisinger | HBA2:c.109T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34001 |
| 2373 | CD 37 CCC>TCC [Pro>Ser] | Hb Boskoop | HBA2:c.112C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34004 |
| 514 | CD 37 CCC>CTC [Pro>Leu] | Hb Manawatu | HBA2:c.113C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34005 |
| 515 | CD 37 CCC>CGC [Pro>Arg] | Hb Boumerdes | HBA2:c.113C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34005 |
| 516 | CD 37 +GAA [+Glu] | Hb Catonsville | HBA1:c.114_115insGAA | HBA2:c.114_115insGAA | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34006, 37810 |
| 2211 | CD 37 CCC>CC- | N/A | HBA2:c.114delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34006 |
| 2319 | CD 38 ACC>GCC [Thr>Ala] | Hb Beaconsfield | HBA1:c.115A>G | HBA2:c.115A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34007, 37811 |
| 3488 | CD 38 ACC>AAC [Thr>Asn] | Hb Pescara | HBA2:c.116C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34008 |
| 3765 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA2:c.118_120del | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 34010 |
| 372 | CD 39-41 (-9 bp, + 8 bp) | N/A | NG_000006.1:g.34010_34018delinsTACTTCCC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34010 |
| 519 | CD 40 AAG>GAG [Lys>Glu] | Hb Kariya | HBA1:c.121A>G | HBA2:c.121A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34013, 37817 |
| 520 | CD 40 AAG>CAG [Lys>Gln] | Hb Linwood | HBA2:c.121A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34013 |
| 521 | CD 40 AAG>ATG [Lys>Met] | Hb Kanagawa | HBA2:c.122A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34014 |
| 524 | CD 40 AAG>AAC [Lys>Asn] | Hb Villiers le Bel | HBA2:c.123G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34015 |
| 2493 | CD 40 AAG>AA- | N/A | HBA2:c.123delG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34015 |
| 525 | CD 41 ACC>TCC or AGC [Thr>Ser] | Hb Miyano | HBA1:c.124A>T | HBA1:c.125C>G | HBA2:c.124A>T | HBA2:c.125C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34016, 37820 |
| 3986 | CD 41 ACC>AAC [Thr>Asn] | Hb Zhuhai | HBA2:c.125C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34017 |
| 373 | CD 42 TAC>CAC [Tyr>His] | Hb Barika | HBA2:c.127T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34019 |
| 3489 | CD 42 TAC>GAC [Tyr>Asp] | Hb Huaxi | HBA2:c.127T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34019 |
| 3801 | CD 42 TAC>TGC [Tyr>Cys] | Hb Hauteluce | HBA2:c.128A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34020 |
| 527 | CD 43 TTC>GTC [Phe>Val] | Hb Torino | HBA1:c.130T>G | HBA2:c.130T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34022, 37826 |
| 528 | CD 43 TTC>ATC [Phe>Ile] | Hb Sens | HBA2:c.130T>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34022 |
| 2214 | CD 43 TTC>T-C | N/A | HBA2:c.131delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34023 |
| 2215 | CD 43/44 -C | N/A | HBA2:c.132delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34024 |
| 529 | CD 43 TTC>TTG [Phe>Leu] | Hb Hirosaki | HBA2:c.132C>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34024 |
| 3382 | CD 44 CCG>TCG [Pro>Ser] | Hb Xuchang | HBA2:c.133C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34025 |
| 3763 | CD 44 CCG>GCG [Pro>Ala] | Hb Milne | HBA2:c.133C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34025 |
| 532 | CD 44 CCG>CGG [Pro>Arg] | Hb Kawachi | HBA1:c.134C>G | HBA2:c.134C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34026, 37830 |
| 533 | CD 44 CCG>CTG [Pro>Leu] | Hb Milledgeville | HBA2:c.134C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34026 |
| 534 | CD 45 CAC>TAC [His>Tyr] | Hb Matsudo | HBA1:c.136C>T | HBA2:c.136C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34028, 37832 |
| 535 | CD 45 CAC>GAC [His>Asp] | Hb Poitiers | HBA1:c.136C>G | HBA2:c.136C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34028, 37832 |
| 537 | CD 45 CAC>CCC [His>Pro] | Hb Oita | HBA2:c.137A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34029 |
| 538 | CD 45 CAC>CAG [His>Gln] | Hb Bari | HBA2:c.138C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34030 |
| 2541 | CD 45 CAC>CAG [His>Gln]; CD 57 GGC>CGC [Gly>Arg] | Hb Blythe Boulevard | HBA2:c.[138C>G;172G>C] | α2 | Causative | α-chain variant | NG_000006.1 | 34030, 34064 |
| 539 | CD 46 TTC>TTG or TTA or CTC [Phe>Leu] | Hb Rockaway | HBA1:c.139T>C | HBA1:c.141C>A | HBA1:c.141C>G | HBA2:c.139T>C | HBA2:c.141C>A | HBA2:c.141C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34031, 37835 |
| 540 | CD 46 TTC>GTC [Phe>Val] | Hb Hillingdon | HBA1:c.139T>G | HBA2:c.139T>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34031, 37835 |
| 2953 | CD 46 TTC>ATC [Phe>Ile] | Hb Brigante | HBA2:c.139T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34031 |
| 2376 | CD 46 TTC>TCC [Phe>Ser] | Hb Lake Tapawingo | HBA2:c.140T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34032 |
| 541 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA2:c.142G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
| 543 | CD 47 GAC>TAC [Asp>Tyr] | Hb Kurdistan | HBA2:c.142G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
| 4107 | CD 47 GAC>AAC [Asp>Asn] | Hb Arya | HBA2:c.142G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
| 3405 | CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC) | N/A | HBA2:c.142_161del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34034 |
| 2216 | CD 47 -A | N/A | HBA2:c.143delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34035 |
| 3053 | CD 47/48 (-4bp): (-ACCT) | N/A | HBA2:c.143_146delACCT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34035 |
| 544 | CD 47 GAC>GGC [Asp>Gly] (Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II) | Hb Beilinson | HBA1:c.143A>G | HBA2:c.143A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34035, 37839 |
| 545 | CD 47 GAC>GCC [Asp>Ala] | Hb Cordele | HBA1:c.143A>C | HBA2:c.143A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34035, 37839 |
| 546 | CD 48 CTG>CGG [Leu>Arg] | Hb Montgomery | HBA2:c.146T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34038 |
| 2535 | CD 48-54 -18 bp | Hb Fenton | HBA2:c.146_163delTGAGCCACGGCTCTGCCC | α2 | Causative | α-chain variant | NG_000006.1 | 34038 |
| 3694 | CD 48 CTG>CAG [Leu>Gln] | Hb Ijselland | HBA2:c.146T>A | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 34038 |
| 374 | CD 49 -GC | N/A | HBA2:c.149_150delGC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34041 |
| 2955 | CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG) | Hb Goya | HBA2:c.149_172del | α2 | Causative | α-chain variant | NG_000006.1 | 34041 |
| 548 | CD 49 AGC>AGA or AGG [Ser>Arg] | Hb Savaria | HBA2:c.150C>A |HBA2:c.150C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34042 |
| 549 | CD 50 CAC>GAC [His>Asp] | Hb J-Sardegna | HBA2:c.151C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34043 |
| 2314 | CD 50 CAC>TAC [His>Tyr] | Hb South Yorkshire | HBA1:c.151C>T | HBA2:c.151C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34043, 37847 |
| 551 | CD 50 CAC>CGC [His>Arg] | Hb Aichi | HBA1:c.152A>G | HBA2:c.152A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34044, 37848 |
| 3923 | CD 50 CAC>CCC [His>Pro] | Hb Porter Brook | HBA2:c.152A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34044 |
| 552 | CD 50 CAC>CAG [His>Gln] | Hb Frankfurt | HBA2:c.153C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34045 |
| 2511 | -α3.7;CD 50 CAC>CAG [His>Gln] (-α3.7kb Frankfurt) | Hb Frankfurt | NG_000006.1:g.34247_38050del;34045C>G | α3.7 hybrid | Causative | α-chain variant | NG_000006.1 | 34045 |
| 554 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA2:c.154G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
| 2458 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton II | HBA2:c.154G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
| 3397 | CD 51 GGC>TGC [Gly>Cys] | Hb Hunan | HBA2:c.154G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34046 |
| 555 | CD 51 GGC>GAC [Gly>Asp] | Hb J-Abidjan | HBA1:c.155G>A | HBA2:c.155G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34047, 37851 |
| 2217 | CD 51/52 +G | N/A | HBA2:c.156_157insG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34048 |
| 2423 | CD 52 TCT>GCT [Ser>Ala] | Hb Cheshire | HBA1:c.157T>G | HBA2:c.157T>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34049, 37853 |
| 3039 | CD 52-59 (-24bp): (-TCTGCCCAGGTTAAGGGCCACGGC) | Hb J-Biskra | HBA2: c.157_180del | α2 | Causative | α-chain variant | NG_000006.1 | 34049 |
| 557 | CD 52 TCT>TTT [Ser>Phe] | Hb Essex | HBA2:c.158C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34050 |
| 558 | CD 53 GCC>GAC [Ala>Asp] | Hb J-Rovigo | HBA2:c.161C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34053 |
| 376 | CD 54 (CAG>TAG) | N/A | HBA2:c.163C>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34055 |
| 3693 | CD 54 CAG>-AG | N/A | HBA2:c.163delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34055 |
| 2472 | CD 54 CAG>CCG [Gln>Pro] | Hb Dhaka | HBA1:c.164A>C | HBA2:c.164A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34056, 37860 |
| 2397 | CD 54 CAG>CAC or CAT [Gln>His] | Hb Princes Risborough | HBA1:p.[Gln55His] | HBA2:p.[Gln55His] | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34057, 37861 |
| 563 | CD 55 GTT>GCT [Val>Ala] | Hb Gerland | HBA2:c.167T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34059 |
| 3079 | CD 55 +T | N/A | HBA2:c.168dup | α2 | Causative | α-thalassaemia | NG_000006.1 | 34060 |
| 3054 | CD 56 AAG>--G | N/A | HBA2:c.169_170delAA | α2 | Causative | α-thalassaemia | NG_000006.1 | 34061 |
| 564 | CD 56 AAG>GAG [Lys>Glu] | Hb Shaare Zedek | HBA2:c.169A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34061 |
| 565 | CD 56 AAG>AGG [Lys>Arg] | Hb Port Huron | HBA1:c.170A>G | HBA2:c.170A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34062, 37866 |
| 569 | CD 57 GGC>GAC [Gly>Asp] (Hb Kagoshima, Hb Nishik-I, Hb Nishik-II, Hb Nishik-III) | Hb J-Norfolk | HBA2:c.173G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34065 |
| 570 | CD 58 CAC>TAC [His>Tyr] (Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka) | Hb M-Boston | HBA2:c.175C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34067 |
| 4072 | CD 58 CAC>AAC [His>Asn] | Hb DG-Nancheng | HBA2:c.175C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34067 |
| 571 | CD 58 CAC>CAA [His>Gln] | Hb Boghé | HBA2:c.177C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34069 |
| 2474 | CD 58 CAC>CAG [His>Gln] | Hb Flurlingen | HBA2:c.177C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34069 |
| 379 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA2:c.178G>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34070 |
| 2409 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA2:c.178G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34070 |
| 377 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA2:c.179G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34071 |
| 575 | CD 59 GGC>GTC [Gly>Val] | Hb Tottori | HBA1:c.179G>T | HBA2:c.179G>T | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34071, 37875 |
| 577 | CD 60 AAG>GAG [Lys>Glu] | Hb Dagestan | HBA2:c.181A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34073 |
| 3987 | CD 60 AAG>AGG [Lys>Arg] | Hb Liuzhou-Liyong | HBA2:c.182A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34074 |
| 580 | CD 61 AAG>GAG [Lys>Glu] | Hb Miyagi | HBA1:c.184A>G | HBA2:c.184A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34076, 37880 |
| 3286 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA2:c.184A>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34076 |
| 581 | CD 61 AAG>ACG [Lys>Thr] | Hb J-Anatolia | HBA2:c.185A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34077 |
| 583 | CD 62 GTG>ATG [Val>Met] | Hb Evans | HBA2:c.187G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34079 |
| 384 | CD 66 CTG>CCG [Leu>Pro] | Hb Dartmouth | HBA2:c.190T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34082 |
| 2218 | CD 63-76 (-42 bp) | N/A | HBA2:c.190_231del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34082 |
| 2362 | CD 63 GCC>GTC [Ala>Val] (Hb Aberystwyth) | Hb Nakhon Ratchsima | HBA2:c.191C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34083 |
| 586 | CD 64 GAC>TAC [Asp>Tyr] | Hb Persepolis | HBA1:c.193G>T | HBA2:c.193G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34085, 37889 |
| 588 | CD 64 GAC>AAC [Asp>Asn] (Hb Aida) | Hb G-Waimanalo | HBA2:c.193G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34085 |
| 589 | CD 64 GAC>GGC [Asp>Gly] | Hb Guangzhou-Hangzhou | HBA1:c.194A>G | HBA2:c.194A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34086, 37890 |
| 590 | CD 65 GCG>ACG [Ala>Thr] | Hb Part-Dieu | HBA2:c.196G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34088 |
| 591 | CD 65 GCG>GTG [Ala>Val] | Hb Bois Guillaume | HBA1:c.197C>T | HBA2:c.197C>T | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34089, 37893 |
| 3381 | CD 67 ACC>ATC [Thr>Ile] | Hb Sichuan | HBA2:c.203C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34095 |
| 593 | CD 68 AAC>GAC [Asn>Asp] | Hb Ube-2 | HBA2:c.205A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34097 |
| 595 | CD 68 AAC>CAC [Asn>His] | Hb St. Truiden | HBA2:c.205A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34097 |
| 2318 | CD 68 AAC>TAC [Asn>Tyr] | Hb Chelmsford | HBA1:c.205A>T | HBA2:c.205A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34097, 37901 |
| 2576 | CD 68 AAC>A-C | N/A | HBA2:c.206delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 34098 |
| 3973 | -α3.7;CD 68 AAC>AAR (-α3.7-Hb G-Philadelphia) | Hb G-Philadelphia | NG_000006.1:g.[34099C>R;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34099, 34247 |
| 4070 | CD 68 (-C) | N/A | HBA2:c.207del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34099 |
| 596 | CD 68 AAC>AAA [Asn>Lys] (Hb D-Baltimore, Hb D-St. Louis, Hb D-Washington, Hb G-Azakouli, Hb G-Bristol, Hb G-Knoxville, Hb Stanleyville-I) | Hb G-Philadelphia | HBA2:c.207C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34099 |
| 598 | CD 69 GCC>ACC [Ala>Thr] | Hb Decines-Charpieu | HBA2:c.208G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34100 |
| 2335 | CD 70 GTG>GGG [Val>Gly] | Hb Edinburgh | HBA2:c.212T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34104 |
| 2312 | CD 71 GCG>ACG [Ala>Thr] | Hb Hatfield | HBA1:c.214G>A | HBA2:c.214G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34106, 37910 |
| 600 | CD 71 GCG>GAG [Ala>Glu] | Hb J-Habana | HBA1:c.215C>A | HBA2:c.215C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34107, 37911 |
| 602 | CD 72 CAC>GAC [His>Asp] | Hb Norton | HBA2:c.217C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34109 |
| 603 | CD 72 CAC>TAC [His>Tyr] (Hb Tanashi) | Hb Fuchu-I | HBA1:c.217C>T | HBA2:c.217C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34109, 37913 |
| 3705 | CD 72 (+C) | N/A | HBA2:c.217dup | α2 | Causative | α-thalassaemia | NG_000006.1 | 34109 |
| 604 | CD 72 CAC>CGC [His>Arg] | Hb Daneshgah-Tehran | HBA2:c.218A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34110 |
| 605 | CD 72 CAC>CAA [His>Gln] | Hb Gouda | HBA2:c.219C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34111 |
| 3055 | CD 73/74 (-4bp): (-GTGG) | N/A | HBA2:c.220_223delGTGG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34112 |
| 606 | CD 74 GAC>AAC [Asp>Asn] | Hb G-Pest | HBA2:c.223G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34115 |
| 2979 | CD 74 GAC>TAC [ Asp>Tyr] | Hb Uttoxeter | HBA2:c.223G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34115 |
| 610 | CD 74 GAC>GCC [Asp>Ala] | Hb Lille | HBA1:c.224A>C | HBA2:c.224A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34116, 37920 |
| 3749 | CD 74 GAC>GGC [Asp>Gly] (Hb Chapel Hill) | Hb Liangqing | HBA2:c224A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34116 |
| 611 | CD 75 (-GAC) | Hb Watts | HBA2:c.226_228del | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34118 |
| 612 | CD 75 GAC>AAC [Asp>Asn] | Hb Matsue-Oki | HBA2:c.226G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34118 |
| 613 | CD 75 GAC>CAC [Asp>His] | Hb Q-Iran | HBA2:c.226G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34118 |
| 614 | CD 75 GAC>TAC [Asp>Tyr] | Hb Winnipeg | HBA2:c.226G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34118 |
| 615 | CD 75 GAC>GTC [Asp>Val] | Hb Al-Hammadi Riyadh | HBA2:c.227A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34119 |
| 616 | CD 75 GAC>GGC [Asp>Gly] | Hb Mizushi | HBA2:c.227A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34119 |
| 617 | CD 76 ATG>AGG [Met>Arg] | Hb Walpole | HBA1:c.230T>G | HBA2:c.230T>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34122, 37926 |
| 618 | CD 76 ATG>ACG [Met>Thr] | Hb Aztec | HBA2:c.230T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34122 |
| 619 | CD 76 ATG>AAG [Met>Lys] | Hb Noko | HBA1:c.230T>A | HBA2:c.230T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34122, 37926 |
| 620 | CD 76 ATG>ATA [Met>Ile] | Hb Hellux | HBA2:c.231G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34123 |
| 3632 | CD 76/77 (+T) | N/A | HBB:c.231_232insT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34123 |
| 2486 | CD 77 CCC>TCC [Pro>Ser] | Hb Nile | HBA2:c.232C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34124 |
| 621 | CD 77 CCC>CAC [Pro>His] | Hb Toulon | HBA2:c.233C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34125 |
| 622 | CD 77 CCC>CTC [Pro>Leu] | Hb Asklipios | HBA2:c.233C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34125 |
| 623 | CD 77 CCC>CGC [Pro>Arg] | Hb GuiZhou | HBA1:c.233C>G | HBA2:c.233C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34125, 37929 |
| 624 | CD 78 AAC>GAC [Asn>Asp] | Hb J-Singa | HBA1:c.235A>G | HBA2:c.235A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34127, 37931 |
| 626 | CD 78 AAC>AAG or AAA [Asn>Lys] | Hb Stanleyville-II | HBA2:c.[237C>A ;237C>G] | α2 | Causative | α-chain variant | NG_000006.1 | 34129 |
| 627 | CD 79 GCG>ACG [Ala>Thr] | Hb Mantes-La-Jolie | HBA1:c.238G>A | HBA2:c.238G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34130, 37934 |
| 628 | CD 79 GCG>GGG [Ala>Gly] | Hb J-Singapore | HBA2:c.239C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34131 |
| 629 | CD 80 CTG>GTG [Leu>Val] | Hb Conakry | HBA2:c.241C>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34133 |
| 630 | CD 80 CTG>CGG [Leu>Arg] | Hb Ann Arbor | HBA2:c.242T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34134 |
| 3800 | CD 80 CTG>CCG [Leu>Pro] | Hb Robbinsdale | HBA2:c.242T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34134 |
| 631 | CD 81 TCC>CCC [Ser>Pro] | Hb Passy | HBA2:c.244T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34136 |
| 2980 | CD 81 TCC>TAC [Ser>Tyr] | Hb Wolverhampton | HBA2:c.245C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34137 |
| 3884 | CD 81 TCC>TTC [Ser>Phe] | Hb Zhaotong | HBA2:c.245C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34137 |
| 634 | CD 82 GCC>GAC [Ala>Asp] | Hb Garden State | HBA1:c.248C>A | HBA2:c.248C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34140, 37944 |
| 3974 | CD 82-83 (-CCTG) | N/A | HBA2:c.249_252del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34141 |
| 635 | CD 83 CTG>CCG [Leu>Pro] | Hb Les Andelys | HBA2:c.251T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34143 |
| 636 | CD 84 AGC>GGC [Ser>Gly] | Hb Wembley | HBA1:c.253A>G | HBA2:c.253A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34145, 37949 |
| 638 | CD 84 AGC>AAC [Ser>Asn] | Hb Meulan | HBA2:c.254G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34146 |
| 2970 | CD 84 AGC>ACC [Ser>Thr] | Hb Oelsnitz | HBA2:c.254G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34146 |
| 640 | CD 85 GAC>TAC [Asp>Tyr] | Hb Atago | HBA1:c.256G>T | HBA2:c.256G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34148, 37952 |
| 2446 | CD 85 GAC>CAC [Asp>His] | Hb Canuts II | HBA2:c.256G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34148 |
| 3952 | CD 85 GAC>AAC [Asp>Asn] | Hb G-Norfolk | HBA2:c.256G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34148 |
| 642 | CD 85 GAC>GTC [Asp>Val] | Hb Inkster | HBA2:c.257A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34149 |
| 2355 | CD 85 GAC>GGC [Asp>Gly] | Hb Benton | HBA2:c.257A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34149 |
| 2398 | CD 85 GAC>GAA or GAG [Asp>Glu] | Hb Aylesbury | HBA1:c.258C>A | HBA1:c.258C>G | HBA2:c.258C>A | HBA2:c.258C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34150, 37954 |
| 2372 | CD 86 CTG>GTG [Leu>Val] | Hb Ridgewood | HBA2:c.259C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34151 |
| 643 | CD 86 CTG>CGG [Leu>Arg] | Hb Moabit | HBA1:c.260T>G | HBA2:c.260T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34152, 37956 |
| 644 | CD 87 +9 bp [+Ser-Asp-Leu] | Hb Neuilly-sur-Marne | HBA1:c.253_261dup | HBA2:c.253_261dup | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34154, 37949 |
| 645 | CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai) | Hb M-Iwate | HBA2:c.262C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34154 |
| 646 | CD 87 CAC>AAC [His>Asn] | Hb Auckland | HBA1:c.262C>A | HBA2:c.262C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34154, 37958 |
| 648 | CD 87 CAC>CGC [His>Arg] | Hb Iwata | HBA1:c.263A>G | HBA2:c.263A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34155, 37959 |
| 2308 | CD 87 CAC>CAG [His>Gln] | Hb Lansing | HBA2:c.264C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34156 |
| 2549 | CD 87 CAC>CAA [His>Glu] | Hb Lansing (A) | HBA2:c.264C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34156 |
| 650 | CD 88 GCG>TCG [Ala>Ser] | Hb Loire | HBA1:c.265G>T | HBA2:c.265G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34157, 37961 |
| 2367 | CD 88 GCG>ACG [Ala>Thr] | Hb Voorhees | HBA2:c.265G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34157 |
| 651 | CD 88 GCG>GAG [Ala>Glu] | Hb Wroclaw | HBA1:c.266C>A | HBA2:c.266C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34158, 37962 |
| 652 | CD 88 GCG>GTG [Ala>Val] | Hb Columbia Missouri | HBA1:c.266C>T | HBA2:c.266C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34158, 37962 |
| 653 | CD 88 GCG>GGG [Ala>Gly] | Hb Valparaiso | HBA1:c.266C>G | HBA2:c.266C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34158, 37962 |
| 654 | CD 89 CAC>TAC [His>Tyr] | Hb Villeurbanne | HBA2:c.268C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34160 |
| 3569 | CD 89-93 (-13bp): (-CACAAGCTTCGGG) | N/A | HBA2:c.268_280delCACAAGCTTCGGG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34160 |
| 655 | CD 89 CAC>CCC [His>Pro] | Hb Tokyo | HBA1:c.269A>C | HBA2:c.269A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34161, 37965 |
| 656 | CD 89 CAC>CGC [His>Arg] | Hb Tamano | HBA1:c.269A>G | HBA2:c.269A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34161, 37965 |
| 657 | CD 89 CAC>CTC [His>Leu] | Hb Luton | HBA2:c.269A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34161 |
| 2390 | CD 89 CAC>CAG [His>Gln] | Hb Enfield | HBA2:c.270C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34162 |
| 659 | CD 90 AAG>GAG [Lys>Glu] | Hb Sudbury | HBA1:c.271A>G | HBA2:c.271A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34163, 37967 |
| 2388 | CD 90 AAG>CAG [Lys>Gln] | Hb Bergerac | HBA2:c.271A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34163 |
| 388 | CD 90 AAG>TAG | N/A | HBA2:c.271A>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34163 |
| 3572 | CD 90‐92 (-8bp): (‐AGCTTCGG) | N/A | HBA2:c.272_279delAGCTTCGG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34164 |
| 660 | CD 90 AAG>ATG [Lys>Met] (Hb Munakata) | Hb Handa | HBA1:c.272A>T | HBA2:c.272A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34164, 37968 |
| 661 | CD 90 AAG>AGG [Lys>Arg] | Hb Clinico-Madrid | HBA2:c.272A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34164 |
| 664 | CD 90 AAG>AAT (Hb Tagawa-I) | Hb J-Broussais | HBA2:c.273G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34165 |
| 2311 | CD 91 CTT>TTT [Leu>Phe] | Hb Treviso | HBA2: c.274C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34166 |
| 2470 | CD 91 CTT>ATT [Leu>Ile] | Hb Zara | HBA2:c.274C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34166 |
| 666 | CD 91 CTT>CCT [Leu>Pro] | Hb Port Phillip | HBA2:c.275T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34167 |
| 2952 | CD 91 CTT>CGT [Leu>Arg] | Hb La Mancha | HBA2:c.275T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34167 |
| 2956 | CD 91 CTT>CAT [Leu>His] | Hb Kalavasos | HBA2:c.275T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34167 |
| 667 | CD 92 CGG>TGG [Arg>Trp] | Hb Cemenelum | HBA1:c.277C>T | HBA2:c.277C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34169, 37973 |
| 3587 | CD 92 CGG>GGG [Arg>Gly] | Hb Leeuwarden | HBA2:c.277C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34169 |
| 669 | CD 92 CGG>CTG [Arg>Leu] | Hb Chesapeake | HBA2:c.278G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34170 |
| 670 | CD 92 CGG>CCG [Arg>Pro] | Hb Monou | HBA2:c.278G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34170 |
| 389 | CD 93 GTG>GGG [Val>Gly] | Hb Bronte | HBA2:c.281T>G | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34173 |
| 3080 | CD 94 (+21 bp duplication) | Hb SKMC | HBA2:c.283_300+3dup | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34175 |
| 673 | CD 94 GAC>TAC [Asp>Tyr] | Hb Setif | HBA2:c.283G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
| 674 | CD 94 GAC>AAC [Asp>Asn] | Hb Titusville | HBA2:c.283G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
| 675 | CD 94 GAC>CAC [Asp>His] | Hb Sunshine Seth | HBA2:c.283G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
| 676 | CD 94 GAC>GTC [Asp>Val] | Hb Kirksey | HBA2:c.284A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34176 |
| 679 | CD 94 GAC>GAG [Asp>Glu] | Hb Roanne | HBA1:c.285C>G | HBA2:c.285C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34177, 37981 |
| 3696 | CD 94 GAC>GAT [Asp>Asp] | N/A | HBA2:c.285C>T | α2 | Neutral | N/A | NG_000006.1 | 34177 |
| 680 | CD 95 CCG>GCG [Pro>Ala] | Hb Denmark Hill | HBA2:c.286C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34178 |
| 682 | CD 95 CCG>TCG [Pro>Ser] | Hb Rampa | NM_000517.4(HBA2):c.286C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34178 |
| 683 | CD 95 CCG>CTG [Pro>Leu] | Hb G-Georgia | HBA2:c.287C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34179 |
| 2375 | CD 96 GTC>ATC [Vla>Ile] | Hb El Salvador | HBA2:c.289G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34181 |
| 686 | CD 96 GTC>GAC [Val>Asp] | Hb El Escorial | HBA2:c.290T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34182 |
| 687 | CD AAC>CAC [Asn>His] (Hb Shinbashi) | Hb Fuchu-II | HBA2:c.292A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34184 |
| 2350 | CD 97 AAC>GAC [Asn>Asp] | Hb Cheektowaga | HBA2:c.292A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34184 |
| 688 | CD 97 AAC>AAA [Asn>Lys] | Hb Dallas | HBA2:c.294C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34186 |
| 3988 | CD 98 TTC>GTC [Phe>Val] | Hb Xiangzhou | HBA2:c.295T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34187 |
| 689 | CD 98 TTC>TAC [Phe>Tyr] | Hb Mill Hill | HBA1:c.296T>A | HBA2:c.296T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34188, 37992 |
| 2466 | CD 99 AAG>CAG [Lys>Gln] | Hb Burkina Fassa | HBA2:c.298A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34190 |
| 3610 | CD 99 AAG>TAG [Lys>STOP] | N/A | HBA2:c.298A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34190 |
| 2416 | CD 99 AAG>ATG [Lys>Met] | N/A | HBA1:c.299A>T | α1 | Causative | α-chain variant | NG_000006.1 | 34191 |
| 2424 | CD 99 AAG>AGG [Lys>Arg] | Hb Papanui | HBA2:c.299A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34191 |
| 2370 | CD 99 AAG>AAC [Lys>Asn] | Hb Fulton | HBA2:c.300G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34192 |
| 391 | IVS II-2 GT>GA donor | N/A | HBA2:c.300+2T>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34194 |
| 3731 | IVS II-34 G>A | N/A | HBA2:c.300+34G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34226 |
| 300 | -α3.7 (type I) (-α3.7) | N/A | NG_000006.1:g.34247_38050del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34247 |
| 3063 | IVS II-55 T>G | N/A | HBA2:c.300+55T>G | α2 | Neutral | N/A | NG_000006.1 | 34247 |
| 3783 | IVS II-64 A>G | N/A | HBA2:c.300+64A>G | α2 | Neutral | N/A | NG_000006.1 | 34256 |
| 2430 | 203 bp deletion | N/A | NG_000006.1:g.34305_34507del203 | α2 | Causative | α-thalassaemia | NG_000006.1 | 34305 |
| 3365 | IVS II-119 (-G) (+CTCGGCCC) | N/A | HBA2:c.301-24delGinsCTCGGCCC | α2 | Neutral | N/A | NG_000006.1 | 34311 |
| 392 | IVS II-142 G>A | N/A | HBA2:c.301-1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34334 |
| 2220 | CD 101 CTA>CCA [Leu>Pro] | Hb Bishopstown | HBA2:c.305T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34339 |
| 692 | CD 102 AGC>CGC [Ser>Arg] | Hb Manitoba I | HBA2:c.307A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34341 |
| 2304 | CD 102 AGC>AAC (Ser>Asn) | Hb Enschede | HBA2:c.308G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34342 |
| 694 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba III | HBA2:c.309C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34343 |
| 696 | CD 103 CAC>TAC [His>Tyr] | Hb Lombard | HBA2:c.310C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34344 |
| 394 | CD 103 CAC>CTC [His>Leu] | Hb Bronovo | HBA2:c.311A>T | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 34345 |
| 698 | CD 103 CAC>CGC [His>Arg] | Hb Contaldo | HBA1:c.311A>G | HBA2:c.311A>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34345, 38156 |
| 2420 | CD 104 TGC>CGC [Cys>Arg] | Hb Iberia | HBA2:c.313T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34347 |
| 3056 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA2:c.313T>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34347 |
| 396 | CD 104 TGC>TAC [Cys>Tyr] | Hb Sallanches | HBA2:c.314G>A | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34348 |
| 3583 | CD 106 CTG>CGG [Leu>Arg] | Hb Beckett | HBA2:c.320T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34354 |
| 3913 | CD 107 GTG>CTG [Val>Leu] | Hb Liaobu | HBA2:c.322G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34356 |
| 2436 | CD 107 GTG>G-G | Hb Lynwood | HBA2:c.323delT | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 34357 |
| 3611 | CD 108 ACC>GCC [Thr>Ala] | N/A | HBA2:c.325A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34359 |
| 4078 | CD 108 ACC>CCC [Thr>Pro] | N/A | HBA1:c.325A>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34359 |
| 397 | CD 108 ACC>AAC [Thr>Asn] | Hb Bleuland | HBA2:c.326C>A | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34360 |
| 2991 | CD 108 ACC>AAC [Thr>Asn] | Hb Rogliano | HBA1:c.326C>A | α1 | Causative | α-chain variant | NG_000006.1 | 34360 |
| 398 | CD 109 (-C) | Hb Sciacca | HBA1:c.328delC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34362 |
| 399 | CD 109 CTG>CGG [Leu>Arg] | Hb Suan Dok | HBA2:c.329T>G | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34363 |
| 2571 | CD 109 CTG>CCG [Leu>Pro] | Hb Milano | HBA1:c.329T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34363 |
| 704 | CD 110 GCC>ACC [Ala>Thr] | Hb Tonosho | HBA1:c.331G>A | HBA2:c.331G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34365, 38176 |
| 401 | CD 110 GCC>GAC [Ala>Asp] | Hb Petah Tikva | HBA1:c.332C>A | HBA2:c.332C>A | α1 or α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34366 |
| 706 | CD 111 GCC>ACC [Ala>Thr] | Hb Mosella | HBA1:c.334G>A | HBA2:c.334G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34368, 38179 |
| 3982 | CD 111 GCC>TCC [Ala>Ser] | Hb Liuzhou-Yufeng | HBA1:c.334G>T | α1 | Causative | α-chain variant | NG_000006.1 | 34368 |
| 707 | CD 111 GCC>GTC [Ala>Val] | Hb Anamosa | HBA2:c.335C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34369 |
| 721 | CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu] | Hb Zaïre | HBA1:c.337_351dup | HBA2:c.337_351dup | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34371, 38182 |
| 2360 | CD 112 CAC>TAC [His>Tyr] | Hb Kansas City | HBA2:c.337C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34371 |
| 2366 | CD 112 CAC>AAC [His>Asn] | Hb Royal Oak | HBA2:c.337C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34371 |
| 4068 | CD 112 CAC>-AC | N/A | HBA2:c.337delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34371 |
| 709 | CD 112 CAC>CGC [His>Arg] (Hb Serbia) | Hb Strumica | HBA1:c.338A>G | HBA2:c.338A>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34372, 38183 |
| 3924 | CD 112 CAC>CCC [His>Pro] | Hb Beligneux | HBA2:c.338A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34372 |
| 404 | CD 113-116 (-12 bp) & CD 112 (C>G) | Hb Leida | HBA2:c.[339C>G;340_351delCTCCCCGCCGAG] | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34373 |
| 402 | CD 112/113 -C | N/A | HBA2:c.339delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34373 |
| 3482 | CD 113 CTC>TTC [Leu>Phe] | Hb Pretoria | HBA2:c.340C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34374 |
| 711 | CD 113 CTC>CGC [Leu>Arg] | Hb San Antonio | HBA2:c.341T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34375 |
| 712 | CD 113 CTC>CAC [Leu>His] | Hb Twin Peaks | HBA1:c.341T>A | HBA2:c.341T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34375, 38186 |
| 713 | CD 114 CCC>TCC [Pro>Ser] | Hb Melusine | NM_000517.6(HBA2):c.343C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34377 |
| 714 | CD 114 CCC>ACC [Pro>Thr] (Hb Bamako) | Hb Jura | HBA2:c.343C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34377 |
| 716 | CD 114 CCC>CGC [Pro>Arg] | Hb Chiapas | HBA1:c.344C>G | HBA2:c.344C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34378, 38189 |
| 2527 | CD 114 (+CC) | N/A | HBA2:c.344_345dup | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34378 |
| 3140 | CD 114 CCC>CC- | N/A | HBA2:c.345delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34379 |
| 2369 | CD 115 -GCC [-Ala] | Hb Towson | HBA2:c.346_348delGCC | α2 | Causative | α-chain variant | NG_000006.1 | 34380 |
| 717 | CD 115 GCC>GAC [Ala>Asp] | Hb J-Tongariki | HBA1:c.347C>A | HBA2:c.347C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34381, 38192 |
| 718 | CD 116 GAG>CAG [Glu>Gln] | Hb Oleander | HBA1:c.349G>C | HBA2:c.349G>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34383, 38194 |
| 3041 | CD 116 GAG>AAG [Glu>Lys] | Hb O-Indonesia | HBA2:c.349G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34383 |
| 405 | CD 116 GAG>TAG | N/A | HBA2:c.349G>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34383 |
| 2221 | CD 115 -GAGTTCACCCC [166 aa] | N/A | HBA2:c.349_359delGAGTTCACCCC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34383 |
| 2337 | CD 116 GAG>GTG [Glu>Val] | Hb Walsgrave | HBA2:c.350A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34384 |
| 722 | CD 117 TTC>ATC [Phe>Ile] | Hb Ambroise Pare | HBA2:c.352T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34386 |
| 2023 | CD 117 TTC>TCC [Phe>Ser] | Hb Foggia | HBA2:c.353T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34387 |
| 3970 | CD 117 TTC>TTG [Phe>Leu] | Hb Jendouba | HBA2:c.354C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34388 |
| 2951 | CD 118 ACC>ATC [Thr>Ile] | Hb Cervantes | HBA2:c.356C>T | α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 34390 |
| 3028 | CD 119 CCT>TCT [Pro>Ser] | Hb Macarena | HBA2:c.358C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34392 |
| 3271 | CD 119 CCT>GCT [Pro>Ala] (Hb Lakeview Terrace) | Hb Arcadia | HBA2:c.358C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34392 |
| 3716 | CD 119 CCT>CAT [Pro>His] | N/A | HBA2:c.359C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34393 |
| 727 | CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham) | Hb J-Meerut | HBA2:c.362C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34396 |
| 3029 | CD 121 (+3bp): (+GTG) | Hb El Retiro | HBA2:c.364_366dupGTG | α2 | Causative | α-chain variant | NG_000006.1 | 34398 |
| 3042 | CD 122 CAC>TAC [His>Tyr] | Hb Yanase | HBA2:c.367C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34401 |
| 2356 | CD 122 CAC>CTC [His>Leu] | Hb Dubai | HBA2:c.368A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34402 |
| 730 | CD 122 CAC>CAG [His>Gln] | Hb Westmead | HBA2:c.369C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34403 |
| 3961 | CD 122/123 (-CG,+GA) | Hb Nanning | HBA2:c.369_370delinsGA | α2 | Causative | α-chain variant | NG_000006.1 | 34403 |
| 731 | CD 123 GCC>ACC [Ala>Thr] (Hb Croxley Green) | Hb Santa Barnabas | HBA2:c.370G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34404 |
| 2457 | CD 123 GCC>GTC [Ala>Val] | Hb Pressath | HBA2:c.371C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34405 |
| 734 | CD 124 TCC>CCC [Ser>Pro] | Hb Policoro | HBA2:c.373T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34407 |
| 3748 | CD 124 TCC>ACC [Ser>Thr] | Hb Huadu | HBA2:c.373T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34407 |
| 2444 | CD 124 TCC>TTC [Ser>Phe] | Hb Batley | HBA1:c.374C>T | HBA2:c.374C>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34408, 38219 |
| 3862 | CD 125 (+C) | N/A | HBA2:c.376dupC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34410 |
| 408 | CD 125 CTG>CCG [Leu>Pro] | Hb Quong Sze | HBA2:c.377T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
| 409 | CD 125 CTG>CGG [Leu>Arg] | Hb Plasencia | HBA2:c.377T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
| 736 | CD 125 CTG>CAG [Leu>Gln] | Hb West-Einde | HBA2:c.377T>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
| 3758 | CD 126 GAC>AAC [Asp>Asn] | Hb Tarrant | HBA2:c.379G>A | α2 | Causative | α-chain variant | NG_000006.1 | 34413 |
| 3305 | CD 126 GCG>-CG | N/A | HBA2:c.379delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34413 |
| 741 | CD 126 GAC>GGC [Asp>Gly] | Hb West One | HBA2:c.380A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34414 |
| 742 | CD 126 GAC>GGC [Asp>Val] | Hb Fukutomi | HBA1:c.380A>T | HBA2:c.380A>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34414, 38225 |
| 2338 | CD 127 AAG>GAG [Lys>Glu] | Hb Coombe Park | HBA2:c.382A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34416 |
| 2519 | CD 127 AAG>TAG [Lys>STOP] | N/A | HBA2:c.382A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34416 |
| 3612 | CD 127 AAG>ATG [Lys>Met] | N/A | HBA2:c.383A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34417 |
| 744 | CD 127 AAG>ACG [Lys>Thr] | Hb St. Claude | HBA1:c.383A>C | HBA2:c.383A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34417, 38228 |
| 2530 | CD 127 AAG>AGG [Lys>Arg] | Hb Longview | HBA2:c.383A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34417 |
| 745 | CD 127 AAG>AAT or AAC [Lys>Asn] | Hb Jackson | HBA1:c.384G>C | HBA1:c.384G>T | HBA2:c.384G>C | HBA2:c.384G>T | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34418, 38229 |
| 2480 | CD 129 CTG>-TG | Hb Hamilton Hill | HBA2:c.388delC | α2 | Causative | α-chain variant | NG_000006.1 | 34422 |
| 412 | CD 129 CTG>CCG [Leu>Pro] | Hb Utrecht | HBA2:c.389T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34423 |
| 3613 | CD 129 CTG>CGG [Leu>Arg] | N/A | HBA2:c.389T>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34423 |
| 413 | CD 130 GCT>CCT [Ala>Pro] | Hb Sun Prairie | HBA2:c.391G>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34425 |
| 750 | CD 130 GCT>GAT [Ala>Asp] | Hb Yuda | HBA2:c.392C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34426 |
| 414 | CD 131 TCT>CCT [Ser>Pro] | Hb Questembert | HBA2:c.394T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34428 |
| 415 | CD 132 GTG>GGG [Val>Gly] | Hb Caen | HBA1:c.398T>G | HBA2:c.398T>G | α1 or α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34432 |
| 4085 | CD 132 (+T) | Hb Balkh | HBA2:c.398dup | α2 | Causative | α-chain variant | NG_000006.1 | 34432 |
| 3404 | CD 133-135 (-AGCACCG) | Hb Aalesund | HBA2:c.400_406del | α2 | Causative | α-chain variant | NG_000006.1 | 34434 |
| 756 | CD 133 AGC>AAC [Ser>Asn] | Hb Saclay | HBA1:c.401G>A | HBA2:c.401G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34435, 38246 |
| 757 | CD 133 AGC>AGA [Ser>Arg] (Hb Footscray) | Hb Val de Marne | HBA2:c.402C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34436 |
| 758 | CD 134 ACC>GCC [Thr>Ala] | Hb Brunswick | HBA2:c.403A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34437 |
| 759 | CD 134 ACC>AGC or TCC [Thr>Ser] | Hb Kenton | HBA1:c.403A>T | HBA1:c.404C>G | HBA2:c.403A>T | HBA2:c.404C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34437, 34438, 38248, 38249 |
| 761 | CD 135 GTG>CTG [Val>Leu] | Hb Tottenham | HBA2:c.406G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34440 |
| 764 | CD 136 CTG>ATG [Leu>Met] | Hb Chicago | HBA2:c.409C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34443 |
| 417 | CD 136 CTG>CCG [Leu>Pro] | Hb Bibba | HBA2:c.410T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34444 |
| 766 | CD 136 CTG>CGG [Leu>Arg] | Hb Toyama | HBA1:c.410T>G | HBA2:c.410T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34444, 38255 |
| 3333 | CD 137 ACC>ACT | N/A | HBA2:c.414C>T | α2 | Neutral | N/A | NG_000006.1 | 34448 |
| 2540 | CD 137-138 ACCTCC>ACTCTC | Hb Pohnpei | HBA2:c.414_416delinsTCT | α2 | Causative | α-chain variant | NG_000006.1 | 34448 |
| 768 | CD 138 TCC>CCC [Ser>Pro] | Hb Attleboro | HBA1:c.415T>C | HBA2:c.415T>C | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34449, 38260 |
| 770 | CD 138 TCC>TTC [Ser>Phe] | Hb Frauenfeld | HBA2:c.416C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34450 |
| 772 | CD 139 AAA>GAA [Lys>Glu] | Hb Hanamaki-2 | HBA2:c.418A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34452 |
| 3379 | CD 139 AAA>CAA [Lys>Gln] | Hb Jilin | HBA2:c.418A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34452 |
| 2981 | CD 139 AAA>AGA [Lys>Arg] | Hb Witham | HBA2:c.419A>G | α2 | Causative | α-chain variant | NG_000006.1 | 34453 |
| 774 | CD 139 AAA>AAC [Lys>Asn] | Hb Fukui | HBA2:c.420A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34454 |
| 775 | CD 139 (-A) | Hb Wayne | HBA2:c.420delA | α2 | Causative | α-chain variant | NG_000006.1 | 34454 |
| 3712 | CD 140 TAC>TCC [Tyr>Ser] | Hb Angers | HBA2:c.422A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34456 |
| 777 | CD 140 TAC>TAA | Hb Natal | HBA2:c.423C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34457 |
| 3732 | CD 140 TAC>TAT [Tyr>Tyr] | N/A | HBA2:c.423C>T | α2 | Neutral | N/A | NG_000006.1 | 34457 |
| 778 | CD 141 CGT>CAT [Arg>Ser] | Hb J-Cubujuqui | HBA1:c.424C>A | HBA2:c.424C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34458, 38269 |
| 780 | CD 141 CTG>TGT [Arg>Cys] | Hb Nunobiki | HBA2:c.424C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34458 |
| 781 | CD 141 CGT>CCT [Arg>Pro] | Hb Singapore | HBA2:c.425G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34459 |
| 418 | CD 142 (TAA>CAA) >172aa | Hb Constant Spring | HBA2:c.427T>C | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34461 |
| 419 | CD 142 (TAA>AAA) >172aa | Hb Icaria | HBA2:c.427T>A | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34461 |
| 421 | CD 142 (TAA>GAA) >172aa | Hb Seal Rock | HBA2:c.427T>G | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34461 |
| 785 | CD 142 TAA>CAA>CAT | Hb Zurich-Altstetten | HBA2:c.[427T>C;429A>T] | α2 | Causative | α-chain variant | NG_000006.1 | 34461 |
| 420 | CD 142 TAA>TCA >172aa | Hb Koya Dora | HBA2:c.428A>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34462 |
| 2526 | CD 142 TAA>TTA >172aa | Hb Kinshasa | HBA2:c.428A>T | α2 | Causative | α-chain variant | NG_000006.1 | 34462 |
| 422 | CD 142 (TAA>TAT) >172aa | Hb Paksé | HBA2:c.429A>T | α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34463 |
| 2230 | -α3.7 (type II) | N/A | NG_000006.1:g.34478_38288del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34478 |
| 2226 | 3'UTR +46 C>A | N/A | HBA2:c.*46C>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34509 |
| 3753 | 3'UTR +71 G>C | N/A | HBA2:c.*71G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 34534 |
| 428 | 3'UTR -16 bp | N/A | HBA2:c.*74_*89delCCTTCCTGGTCTTTGA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34537 |
| 3733 | 3'UTR +82 G>A | N/A | HBA2:c.*82G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34545 |
| 4041 | 3.8 kb deletion | N/A | NC_000016.10:g.173682_177493del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 34545 |
| 4111 | Poly A (AATAAA>AAΑΑΑ) | N/A | HBA2:c.*91delT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34554 |
| 425 | Poly A (AATAAA>AATGAA) (αPolyA2) | N/A | HBA2:c.*92A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34555 |
| 426 | Poly A (AATAAA>AATA--) | N/A | HBA2:c.*93_*94delAA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34556 |
| 424 | Poly A (AATAAA>AATAAG) (αPolyA1, αT-Saudi) | N/A | HBA2:c.*94A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34557 |
| 427 | Poly A (AATAAA>AATAAC) | N/A | HBA2:c.*94A>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34557 |
| 3805 | Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication) | N/A | NG_000006.1:g.[34557A>G;37979_379996dup] | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34557 |
| 3734 | 3'UTR +98 T>C | N/A | HBA2:c.*98T>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 34561 |
| 2228 | 3'UTR +107 A>G (3' UTR +832 G>A) | N/A | HBA2:c.*107A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34570 |
| 2231 | -α3.7 (type III) | N/A | NG_000006.1:g.34570_38381del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34570 |
| 3301 | TTS +26 A>G | N/A | HBA2:c.*136A>G | α2 | Neutral | N/A | NG_000006.1 | 34599 |
| 2263 | α-ZF | N/A | NC_000016.10:g.174046_192396del | α1 | Causative | α-thalassaemia | NG_000006.1 | 34909 |
| 303 | -α2.7 | N/A | NG_000006.1:g.36664_39364del2701 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 36664 |
| 302 | -α2.4 | N/A | NG_000006.1:g.36859_39252del | α1 | Causative | α-thalassaemia | NG_000006.1 | 36859 |
| 3072 | 125 bp deletion | N/A | NG_000006.1: g.37040_37164del | α1 | Neutral | N/A | NG_000006.1 | 37040 |
| 304 | -α3.5 | N/A | NG_000006.1:g.37464_40964del3501 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37464 |
| 3740 | -5 C>T | N/A | HBA1:c.-42C>T | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37538 |
| 3764 | -4 G>C | N/A | HBA1:c.-41C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37539 |
| 3614 | CAP +14 C>G | N/A | HBA1:c.-24C>G | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37556 |
| 340 | CAP +22 T>C | N/A | HBA1:c.-16T>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37564 |
| 3735 | Cap +23 C>G | N/A | HBA1:c.-15C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37565 |
| 2203 | CAP +29 (G>C) | N/A | HBA1:c.-9G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37571 |
| 341 | Init CD ATG>GTG | N/A | HBA1:c.1A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37580 |
| 3147 | Init CD ATG>AAG [Met>Lys] | N/A | HBA1:c.2T>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37581 |
| 3250 | Init CD ATG>A-G | N/A | HBA1:c.2delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
| 3719 | Init CD ATG>ACG [Met>Thr] | N/A | HBA1:c.2T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
| 429 | CD 1 GTG>TTG [Val>Leu] | Hb Baldock | HBA1:c.4G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37583 |
| 435 | CD 2 CTG>CGG [Leu>Arg] | Hb Chongqing | HBA1:c.8T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37587 |
| 3699 | CD 2 CTG>CCG [Leu>Pro] | Hb Kaiser West End | HBA1:c.8T>C | α1 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 37587 |
| 2352 | CD 2/3 +CTG [+Leu] | Hb Pittsburgh | HBA1:c.9_10insCTG | α1 | Causative | α-chain variant | NG_000006.1 | 37588 |
| 437 | CD 3 TCT>TTT [Ser>Phe] | Hb Douala | HBA1:c.11C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37590 |
| 3981 | CD 5 GCC>ACC [Ala>Thr] | Hb Hengqin I | HBA1:c.16G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37595 |
| 441 | CD 5 GCC>GAC [Ala>Asp] | Hb J-Toronto | HBA1:c.17C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37596 |
| 442 | CD 6 GAC>TAC [Asp>Tyr] | Hb Woodville | HBA1:c.19G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37598 |
| 444 | CD 6 GAC>CAC [Asp>His] | Hb Galliera I | HBA1:c.19G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37598 |
| 3922 | CD 6 GAC>GAG [Asp>Glu] | Hb Brammer | HBA1:c.21C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37600 |
| 450 | CD 7 AAG>GAG [Lys>Glu] | Hb Kurosaki | HBA1:c.22A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37601 |
| 4006 | CD 7 AAG>A-G (g.188 (GenBank MK600512.1)) | N/A | HBA1:c.23delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37602 |
| 2987 | CD 9 AAC>GAC [Asn>Asp] | Hb Farnborough | HBA1:c.28A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37607 |
| 453 | CD 9 AAC>AGC [Asn>Ser] | Hb Anadour | HBA1:c.29A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37608 |
| 456 | CD 9 AAC>AAG or AAA [Asn>Lys] | Hb Delfzicht | HBA1:c.30C>G | HBA1:c.30C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37609 |
| 3953 | CD 11 AAG>CAG [Lys>Gln] | Hb J-Wenchang-Wuming | HBA1:c.34A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37613 |
| 461 | CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur) | Hb J-Paris-I | HBA2:c.38C>A | α2 | Causative | α-chain variant | NG_000006.1 | 37617 |
| 2386 | CD 13 GCC>ACC [Ala>Thr] | Hb Olivet | HBA1:c.40G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37619 |
| 347 | CD 14 TGG>CGG [Trp>Arg] | Hb Evanston | HBA1:c.43T>C | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37622 |
| 349 | CD 14 TGG>TAG [Trp>STOP] | N/A | HBA1:c.44G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37623 |
| 2380 | CD 14 TGG>TTG [Trp>Leu] | Hb Basel | HBA1:c.44G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37623 |
| 465 | CD 15 GGT>CGT [Gly>Arg] (Hb Siam) | Hb Ottawa | HBA1:c.46G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37625 |
| 2365 | CD 15 GGT>TGT [Gly>Cys] | Hb St. Rose | HBA1:c.46G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37625 |
| 466 | cd 15 GGT>GAT [Gly>Asp] (Hb J-Oxford , Hb N-Cosenza) | Hb I-Interlaken | HBA1:c.47G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37626 |
| 2509 | CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas) | HbI | HBA1:c.49A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37628 |
| 3395 | CD 16 AAG>TAG [Lys>STOP] | N/A | HBA1:c.49A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37628 |
| 468 | CD 16 AAG>ATG [Lys>Met] | Hb Harbin | HBA1:c.50A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37629 |
| 471 | CD 18 GGC>CGC [Gly>Arg] | Hb Handsworth | HBA1:c.55G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
| 2353 | CD 18 GGC>TGC [Gly>Cys] | Hb Lima | HBA1:c.55G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
| 3000 | CD 18 GGC>AGC [ Gly>Ser] | Hb King Ecgbert | HBA1:c.55G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
| 2205 | CD 20 +T | N/A | HBA1:c.62_63insT | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37641 |
| 2285 | CD 20 CAC>CCC [His>Pro] (Hb Anderlecht) | Hb Fulton-Georgia | HBA1:c.62A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37641 |
| 2317 | CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin) | Hb Brugg | HBA1:c.63C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37642 |
| 4102 | CD 20 CAC>CAG [His>Gln] | Hb Ormylia | HBA1:c.63C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37642 |
| 482 | CD 21 GCT>GAT [Ala>Asp] | Hb J-Nyanza | HBA1:c.65C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37644 |
| 3266 | CD 22 GGC>GGT [Gly>Gly] | N/A | HBA1:c.69C>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37648 |
| 3267 | CD 23 GAG>TAG | N/A | HBA1:c.70G>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37649 |
| 3757 | CD 23 GAG>CAG [Glu>Gln] | Hb Memphis | HBA1:c.70G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37649 |
| 491 | CD 24 TAT>TGT [Tyr>Cys] | Hb Ramona | HBA1:c.74A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37653 |
| 3954 | CD 16 AAG>AAC [Lys>Asn] | Hb Beijing | HBA1:c.51G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37656 |
| 3942 | CD 26 GCG>GGG [Ala>Gly] | N/A | HBA1:c.80C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37659 |
| 2510 | CD 27 GAG>GAC [Glu>Asp] | Hb Hekinan | HBA1:c.84G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37663 |
| 2983 | CD 27 GAG>GAT [Glu>Asp] | Hb Hekinan II | HBA1:c.84G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37663 |
| 2995 | CD 28 GCC>ACC [Ala>Thr] | Hb Bramall Lane | HBA1:c.85G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37664 |
| 3032 | CD 28 GCC>TCC [Ala>Ser] | N/A | HBA1:c.85G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37664 |
| 2313 | CD 28 GCC>GTC [Ala>Val] | Hb Nedlands | HBA1:c.86C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37665 |
| 2310 | CD 29 CTG>GTG [Leu>Val] | Hb Kosovo | HBA1:c.88C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37667 |
| 502 | CD 30 GAG>CAG [Glu>Gln] (Hb G-Chinese, Hb G-Hong Kong, Hb G-Singapore) | Hb G-Honolulu | NM_000558.5(HBA1):c.91G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37670 |
| 3767 | CD 30 GAG>AAG [Glu>Lys] | Hb O-Padova | HBA1:c.91G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37670 |
| 3030 | CD 30 GAG>TAG | N/A | HBA1:c.91G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37670 |
| 504 | CD 30 GAG>GCG [Glu>Ala] | Hb Bom Jesus da Lapa | HBA1:c.92A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37671 |
| 505 | CD 30 GAG>GTG [Glu>Val] | Hb Itapira | HBA1:c.92A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37671 |
| 2402 | CD 31 AGG>ACG [Arg>Thr] | Hb Mao | HBA1:c.95G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37674 |
| 358 | IVS I-1 AGGT>AGAT donor | N/A | HBA1:c.95+1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37675 |
| 3049 | IVS I-1 AGGT>AGCT donor | N/A | HBA1:c.95+1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37675 |
| 2204 | IVS I-4 A>G | N/A | HBA1:c.95+4A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37678 |
| 361 | IVS I-5 G>A | N/A | HBA1:c.95+5 G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37679 |
| 3431 | IVS I-38 C>T | N/A | HBA1:c.95+38C>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37712 |
| 3768 | IVS I-39 C>T | N/A | HBA1:c.95+39C>T | α1 | Neutral | N/A | NG_000006.1 | 37713 |
| 3782 | IVS I-41 G>T | N/A | NM_000558.5(HBA1):c.95+41G>T | α1 | Neutral | N/A | NG_000006.1 | 37715 |
| 2212 | IVS I-45 G>C | N/A | HBA1:c.95+45G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37719 |
| 2451 | IVS I-116 A>G | N/A | HBA1:c.96-2A>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37790 |
| 364 | IVS I-117 GCAGGA>GCAAGA acceptor | N/A | HBA1:c.96-1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37791 |
| 3251 | IVS I-117 GCAGGA>GCACGA acceptor | N/A | HBA1:c.96-1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37791 |
| 2381 | CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya) | Hb Queens Park | HBA1:c.98T>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37794 |
| 2986 | CD 32 ATG>ACG [Met>Thr] | Hb Bridlington | HBA1:c.98T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37794 |
| 3252 | CD 32 ATG>ATA [Met>Ile] | Hb Amsterdam-A1 | HBA1:c.99G>A | α1 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 37795 |
| 509 | CD 34 CTG>CGG [Leu>Arg] (Hb Ogi) | Hb Queens | HBA1:c.104T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37800 |
| 2968 | CD 36 TTC>TAC [ Phe>Tyr] | Hb Kempten | HBA1:c.110T>A | α1 | Causative | α-chain variant | NG_000006.1 | 37806 |
| 370 | CD 37 -CCC [-Pro) | Hb Heraklion | HBA1:c.112_114delCCC | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37808 |
| 4077 | CD 37 CCC>CC- | N/A | HBA1:c.114del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37810 |
| 517 | CD 38 ACC>ATC [Thr>Ile] | Hb Chelsea | HBA1:c.116C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37812 |
| 371 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA1:c.118_120del | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37814 |
| 3403 | CD 39 +A | N/A | HBA2:c.118_119insA | α2 | Causative | α-thalassaemia | NG_000006.1 | 37814 |
| 3856 | CD 40-41 (-AAGACC) | N/A | HBA1:c.121_126delAAGACC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37817 |
| 522 | CD 40 AAG>ACG [Lys>Thr] | Hb Pisa | HBA1:c.122A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37818 |
| 523 | CD 40 AAG>AAC [Lys>Asn] | Hb Saratoga Springs | HBA1:c.123G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37819 |
| 2385 | CD 42 TAC>TCC [Tyr>Ser] | Hb Erzeroum | HBA1:c.128A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37824 |
| 3557 | CD 43 TTC>CTC [Phe>Leu] | Hb Vanvitelli | HBA1:c.130T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37826 |
| 530 | CD 44 CCG>GCG [Pro>Ala] (Hb Milne) | Hb Hagerstown | HBA1:c.133C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
| 3264 | CD 44 CCG>TCG [Pro>Ser] | Hb Wiangpapao | HBA1:c.133C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
| 2468 | CD 44 +C | N/A | HBA1:c.134_135insC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37830 |
| 536 | CD 45 CAC>CGC [His>Arg] | Hb Fort de France | HBA1:c.137A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37833 |
| 542 | CD 47 GAC>AAC [Asp>Asn] | Hb Arya | HBA1:c.142G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37838 |
| 2500 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA1:c.142G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37838 |
| 547 | CD 48 CTG>CCG [Leu>Pro] | Hb Reading | HBA1:c.146T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37842 |
| 3040 | CD 48 CTG>CGG [Leu>Arg] | Hb Montgomery | HBA1:c.146T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37842 |
| 3026 | CD 49 AGC>CGC [Ser>Arg] | Hb Puerta del Sol | HBA1:c.148A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37844 |
| 2993 | CD 49 AGC>AAC [Ser>Asn] | Hb Furuset | HBA1:c.149G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37845 |
| 2529 | CD 50 +GGAGCC | Hb Bakersfield | HBA1:c.151_152insGGAGCC | α1 | Causative | α-chain variant | NG_000006.1 | 37847 |
| 550 | CD 50 CAC>CTC [His>Leu] | Hb Dublin | NM_000558.5(HBA1):c.152A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37848 |
| 2501 | CD 50 CAC>CAG [His>Gln] | Hb Frankfurt | HBA1:c.153C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37849 |
| 553 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton | HBA1:c.154G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
| 2502 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA1:c.154G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
| 375 | CD 51-55 (-13 bp deletion) | N/A | HBA1:c.155_167delGCTCTGCCCAGGT | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37851 |
| 556 | CD 52-59 (-24 bp) | Hb J-Biskra | HBA1:c.157_180del | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
| 3442 | CD 51-58 (+24 bp) | Hb Choisy | HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
| 3560 | CD 52 TCT>TGT [Ser>Cys] | Hb Dongguan | HBA1:c.158C>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37854 |
| 4009 | CD53 GCC>ACC [Ala>Thr] (g.443 (GenBank MK600512.1)) | N/A | HBA1:c.160G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37856 |
| 559 | CD 54 CAG>GAG [Gln>Glu] (Hb J-Paris-II, Hb Uppsala) | Hb Mexico | HBA1:c.163C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37859 |
| 560 | CD 54 CAG>CGG [Gln>Arg] (Hb Hikoshima) | Hb Shimonoseki | HBA1:c.164A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37860 |
| 2417 | CD 54 CAG>CGG [Gln>Arg] | Hb Shimonoseki | HBA1:c.164A>G | α1, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 37860 |
| 3626 | CD 54 CAG>CAT [Gln>His] | Hb Goole | HBA1:c.165G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37861 |
| 561 | CD 55 GTT>CTT [Val>Leu] (Hb Poland) | Hb Roubaix | HBA1:c.166G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37862 |
| 562 | CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1) | Hb Gerland | HBA1:c.167T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37863 |
| 566 | CD 56 AAG>ACG [Lys>Thr] | Hb Thailand | HBA1:c.170A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37866 |
| 567 | CD 56 AAG>AAT or AAC [Lys>Asn] | Hb Belliard | HBA1:c.171G>C | HBA1:c.171G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37867 |
| 568 | CD 57 GGC>CGC [Gly>Arg] | Hb L-Persian Gulf | HBA1:c.172G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
| 3075 | CD 56/57 (+24bp) (HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH) | Hb Kaohsiung Veterans General Hospital | HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
| 3962 | CD 57 GGC>TGC [Gly>Cys] | Hb Kirikiriroa | HBA1:c.172G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
| 3175 | CD 58 CAC>CTC [His>Leu] | Hb Kirklareli | HBA1:c.176A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37872 |
| 573 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA1:c.178G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37874 |
| 3280 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA1:c.178G>C | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37874 |
| 378 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA1:c.179G>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37875 |
| 3624 | CD 60 AAG>GAG [Lys>Glu] | Hb Liuzhou | HBA1:c.182A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37878 |
| 578 | CD 60 AAG>AAT | Hb Zambia | HBA1:c.183G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37879 |
| 380 | CD 61 (-AAG) | Hb Clinic | HBA1:c.184_186del | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37880 |
| 3334 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA1:c.184A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
| 3717 | CD 61 AAG>-AG | N/A | HBA1:c.184del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
| 2982 | CD 61 AAG>AGG [Lys>Arg] | Hb Derby | HBA1:c.185A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37881 |
| 582 | CD AAG>AAT [Lys>Asn] | Hb J-Buda | HBA1:c.186G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37882 |
| 381 | CD 62 (-GTG) [-Val] | Hb Aghia Sophia | HBA1:c.187_189del | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37883 |
| 382 | CD 62 GTG>-TG | Hb Champaign | HBA1:c.187delG | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37883 |
| 2429 | CD 62 GTG>GCG [Val>Ala] | N/A | HBA1:c.188T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37884 |
| 2347 | CD 62 -G | N/A | HBA1:c.189delG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37885 |
| 3015 | CD 63 GCC>ACC [Ala>Thr] | Hb Greenville-NC | HBA1:c.190G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37886 |
| 585 | CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise) | Hb Pontoise | NM_000558.5(HBA1):c.191C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37887 |
| 383 | CD 64-74 (-33 bp) | N/A | HBA1:c.193_225del33 | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37889 |
| 587 | CD 64 GAC>CAC [Asp>His] | Hb Q-India | HBA1:c.193G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37889 |
| 2528 | CD 64 GAC>AAC [Asp>Asn] (Hb Wädenswil, Hb Burgos) | Hb G-Waimanalo | HBA1:c.193G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37889 |
| 2455 | CD 64 GAC>GCC [Asp>Ala] | Hb Lucan | HBA1:c.194A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37890 |
| 3788 | CD 65 GCG>CCG [Ala>Pro] | Hb Maruchi | HBA1:c.196G>C | α1 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 37892 |
| 3373 | CD 67 ACC>-CC | N/A | HBA1:c.202delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37898 |
| 594 | CD 68 AAC>CAC [Asn>His] | Hb Jeddah | HBA1:c.205A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37901 |
| 597 | CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn] | Hb Esch | HBA1:c.207_208insGCGCTGACCAAC | α1 | Causative | α-chain variant | NG_000006.1 | 37904 |
| 3755 | CD 69 GCC>GCT [Ala>Ala] | N/A | HBA1:c.210C>T | α1 | Neutral | N/A | NG_000006.1 | 37906 |
| 4007 | CD 70 GTG>TTG [Val>Leu] (g.494 (GenBank MK600512.1)) | N/A | HBA1:c.211G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37907 |
| 599 | CD 70 GTG>ATG [Val>Met] | Hb Haaksbergen | HBA1:c.211G>A | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37907 |
| 385 | CD 74/75 -GAC [- Asp] | N/A | HBA1:c.212_214delGAC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37908 |
| 2358 | CD 71 GCG>GTG [Ala>Val] (Hb Ozieri) | Hb Allison Park | HBA1:c.215C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37911 |
| 3312 | CD 72 CAC>CAG [His>Gln] | Hb Madonie | HBA1:c.219C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37915 |
| 4008 | CD 72 CAC>CA- (g.502 (GenBank: MK600512.1)) | N/A | HBA1:c.219delC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37915 |
| 2996 | CD 73 GTG>ATG [Val>Met] | Hb Argenteuil | HBA1:c.220G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37916 |
| 3326 | CD 73 GTG>G-G | N/A | HBA1:c.221delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37917 |
| 3848 | -α4.2-Q-Thailand | N/A | N/A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37919 |
| 607 | CD 74 GAC>CAC [Asp>His] (Hb Asabara, Hb G-Taichung, Hb Kurashiki-I, Hb Mahidol) | Hb Q-Thailand | HBA1:c.223G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37919 |
| 3759 | CD 74 GAC>AAC [Asp>Asn] | Hb G-Pest | HBA1:c.223G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37919 |
| 608 | CD 74 GAC>GTC [Asp>Val] | Hb Les Lilas | HBA1:c.224A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37920 |
| 609 | CD 74 GAC>GGC [Asp>Gly] | Hb Chapel Hill | HBA1:c.224A>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37920 |
| 3875 | CD 74 GAC>GAG [Asp>Glu] | Hb Jishui | HBA1:c.225C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37921 |
| 2503 | CD 75 GAC>TAC [Asp>Tyr] | Hb Winnipeg | HBA1:c.226G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37922 |
| 3760 | CD 75 GAC>AAC [Asp>Asn] | Hb Matsue-Oki | HBA1:c.226G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37922 |
| 2485 | CD 77 CCC>TCC [Pro>Ser] | Hb Nile | HBA1:c.232C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37928 |
| 2504 | CD 77 CCC>CAC [Pro>His] | Hb Toulon | HBA1:c.233C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37929 |
| 625 | CD 78 AAC>CAC [Asn>His] | Hb Davenport | HBA1:c.235A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37931 |
| 2505 | CD 78 AAC>AAG [Asn>Lys] | Hb Stanleyville-II | HBA1:c.237C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37933 |
| 3897 | CD 78 AAC>AAA [Asn>Lys] | Hb Qinzhou | HBA1:c.237C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37933 |
| 386 | CD 78 -C | N/A | HBA1:c.237delC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37933 |
| 4081 | CD 79 GCG>GTG [Ala>Val] | Hb Tangshan | HBA1:c.239C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37935 |
| 2219 | CD 81 -T | N/A | HBA2:c.244delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37940 |
| 632 | CD 81 TCC>TGC [Ser>Cys] | Hb Nigeria | HBA1:c.245C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37941 |
| 633 | CD 82 GCC>ACC (Ala>Thr) | Hb Hagley Park | HBA1:c.247G>A | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37943 |
| 387 | CD 82-84 (-9 bp) | N/A | HBA1:c.247_255del | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37943 |
| 2281 | CD 83 CTG>CGG [Leu>Arg] | Hb Ahvaz | HBA2: c.251T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37947 |
| 637 | CD 84 AGC>AGA [Ser>Arg] | Hb Etobicoke | HBA1:c.255C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37949 |
| 639 | CD 85 GAC>AAC [Asp>Asn] | Hb G-Norfolk | HBA1:c.256G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37952 |
| 641 | CD 85 GAC>CAC [Asp>His] | Hb Canuts | HBA1:c.256G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37952 |
| 2336 | CD 86 CTG>GTG [Leu>Val] | N/A | HBA1:c.259C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37955 |
| 4098 | CD 86 CTG>CCG [Leu>Pro] | Hb Thessaloniki | HBA1:c.260T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37956 |
| 647 | CD 87 CAC>GAC [His>Asp] | Hb Bonn | HBA1:c.262C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
| 2506 | CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai) | Hb M-Iwate | HBA1:c.262C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
| 649 | CD 87 CAC>CCC [His>Pro] | Hb Grifton | HBA1:c.263A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37959 |
| 3879 | CD 87 CAC>CTC [His>Leu] | Hb Padma River | HBA1:c.263A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37959 |
| 3861 | CD 87 (-A) | N/A | HBA1:c.263delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37959 |
| 3434 | CD 87 CAC>CAG [His>Gln] | Hb Lansing-Ramathibodi | HBA1:c.264C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37960 |
| 658 | CD 89 CAC>CAG [His>Gln] | Hb Buffalo | HBA1:c.270C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37966 |
| 3630 | CD 90 AAG>CAG [Lys>Gln] | Hb Luocheng | HBA1:c.271A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37967 |
| 662 | CD 90 AAG>AGG [Lys>Arg] | Hb Clinico Madrid II | HBA1:c.272A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37968 |
| 663 | CD 90 AAG>ACG | Hb J-Rajappen | HBA1:c.272A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37968 |
| 3756 | CD 90 AAG>AAC [Lys>Asn] | Hb J-Broussais | HBA1:c.273G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37969 |
| 3993 | CD 90 AAG>AAT [Lys>Asn] | Hb Guigang | HBA1:c.273G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37969 |
| 665 | CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn) | Hb Vientiane | HBA1:c.274C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37970 |
| 668 | CD 92 CGG>CAG [Arg>Gln] | Hb J-Cape Town | HBA1:c.278G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37973 |
| 3852 | CD 93 GTG>ATG [Val>Met] | Hb Qingcheng | HBA1:c.280G>A | α1 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 37976 |
| 390 | CD 93-99 (+21 bp) | N/A | HBA1:c.280_300ins21 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37976 |
| 672 | CD 93 GTG>GCG [Val>Ala] | Hb Die | HBA1:c.281T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37977 |
| 2507 | CD 94 GAC>AAC [Asp>Asn] | Hb Titusville | HBA1:c.283G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37979 |
| 2539 | IVS II-3 (+21bp) | Hb SKMC | HBA1:c.283_300+3dup | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37979 |
| 677 | CD 94 GAC>GCC [Asp>Ala] | Hb Bassett | HBA1:c.284A>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37980 |
| 678 | CD 94 GAC>GGC [Asp>Gly] | Hb Çapa | HBA1:c.284A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37980 |
| 681 | CD 95 CCG>ACG [Pro>Thr] | Hb Godavari | NM_000558.3(HBA1):c.286C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37982 |
| 684 | CD 95 CCG>CGG [Pro>Arg] | Hb St. Luke's | HBA1:c.287C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
| 685 | CD 95 CCG>CAG [Pro>Gln] | Hb Wichita | HBA1:c.287C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
| 3718 | CD 95 CCG>CTG [Pro>Leu] | Hb Georgia | HBA1:c.287C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
| 4093 | CD 95 (-C) | Hb Campania | HBA1:c.287delC | α1 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 37983 |
| 2357 | CD 96 GTC>CTC [Val>Leu] | Hb Woodstock | HBA1:c.289G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37985 |
| 3914 | CD 97 AAC>AGC [Asn>Ser] | Hb Northwood | HBA1:c.293A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37989 |
| 690 | CD 99 AAG>GAG [Lys>Glu] (Hb Turriff-I) | Hb Turriff | NM_000558.5(HBA1):c.298A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37994 |
| 2467 | CD 99 AAG>TAG | N/A | HBA1:c.298A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37994 |
| 691 | CD 99 AAG>AAT [Lys>Asn] (Hb Harlow) | Hb Beziers | HBA1:c.300G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37996 |
| 3031 | IVS II-1 G>A | N/A | HBA1:c.300+1G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37997 |
| 3736 | IVS II-55 G>T | N/A | HBA1:c.300+55G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38051 |
| 3737 | IVS II-58 G>A | N/A | HBA1:c.300+58G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38054 |
| 4005 | IVS II-96 G>C (g.679 (GenBank MK600512.1)) | N/A | HBA1:c.300+96G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38092 |
| 4042 | IVS II-2 (-8 bp, +1 bp) | N/A | HBA1:c.301-31_301-24delinsG | α1 | Causative | α-thalassaemia | NG_000006.1 | 38115 |
| 3738 | IVS II-141 T>C | N/A | HBA1:c.301-9T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38137 |
| 2222 | IVS II-147 C>G | N/A | HBA1:c.301-3C>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38143 |
| 393 | IVS II-148 A>G consensus | N/A | HBA1:c.301-2A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38144 |
| 2303 | CD 100 CTC>TTC (Leu>Phe) | Hb Weesp | HBA1:c.301C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38146 |
| 2305 | CD 100 CTC>CCC [Leu>Pro] | Hb Corsica | HBA1:c.302T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38147 |
| 2985 | CD 102 AGC>CGC [Ser>Arg] | Hb Manitoba IV | HBA1:c.307A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38152 |
| 693 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba II | HBA1:c.309C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38154 |
| 695 | CD 103 CAC>TAC [His>Tyr] | Hb Charolles | HBA1:c.310C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
| 2532 | CD 103 CAC>GAC [His>Asp] | Hb Illinois | HBA1:c.310C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
| 395 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA1:c.313T>A | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38158 |
| 3956 | CD 104 TGC>TAC [Cys>Tyr] | Hb Sallanches | HBA1:c.314G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38159 |
| 2340 | CD 104 TGC>TGG [Cys>Trp] | Hb Donnington | HBA1:c.315C>G | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38160 |
| 701 | CD 106 CTG>CCG [Leu>Pro] | Hb Charlieu | HBA1:c.320T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38165 |
| 2315 | CD 110 GCC>GTC [Ala>Val] (Hb White Rose) | Hb Montluel | HBA1:c.332C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38177 |
| 2224 | CD 110-114 (-13 bp) | N/A | HBA1:c.333_345delCGCCCACCTCCCC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38178 |
| 708 | CD 112 CAC>GAC [His>Asp] | Hb Hopkins-II | NM_000558.5(HBA1):c.337C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38182 |
| 2377 | CD 112 CAC>CAA [His>Gln] | Hb West Allis | HBA1:c.339C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38184 |
| 2316 | CD 114 CCC>GCC [Pro>Ala] | Hb Broomhill | NM_000558.5(HBA1):c.343C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38188 |
| 715 | CD 114 CCC>CTC [Pro>Leu] | Hb Nouakchott | NM_000558.3(HBA1):c.344C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38189 |
| 3378 | CD 114 CCC>CAC [Pro>His] | Hb Hubei | HBA1:c.344C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38189 |
| 2322 | CD 115 GCC>GTC [Ala>Val] | Hb Palmela | HBA1:c.347C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38192 |
| 720 | CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X, Hb Oliviere) | Hb O-Indonesia | HBA1:c.349G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
| 723 | CD 118-119 +9 bp [+Glu-Phe-Thr] (Hb Dakar) | Hb Grady | HBA1:c.349_357dup | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
| 3864 | CD 116 GAG>TAG [Glu>Stop] | N/A | HBA1:c.349G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38194 |
| 719 | CD 116 GAG>GCG [Glu>Ala] | Hb Ube-4 | HBA1:c.350A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38195 |
| 724 | CD 117/118 +ATC [+Ile] | Hb Phnom Penh | HBA1:c.354_355insATC | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38199 |
| 3036 | CD 117/118 +TCA [+Ser] | Hb Wexham | HBA1:c.354_355insTCA | α1 | Causative | α-chain variant | NG_000006.1 | 38199 |
| 406 | CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda) | Hb Groene Hart | HBA1:c.358C>T | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38203 |
| 726 | CD 119 CCT>CTT [Pro>Leu] | Hb Diamant | HBA1:c.359C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38204 |
| 2508 | CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham) | Hb J-Meerut | HBA1:c.362C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38207 |
| 728 | CD 121 GTG>ATG [Val>Met] | Hb Owari | HBA1:c.364G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38209 |
| 729 | CD 122 CAC>TAC [His>Tyr] | Hb Yanase | HBA1:c.367C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
| 3751 | CD 122 CAC>GAC [His>Asp] | Hb Daxin | HBA1:c.367C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
| 407 | CD 123 GCC >CCC [Ala>Pro] | Hb Voreppe | HBA1:c.370G>C | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38215 |
| 733 | CD 123 GCC>TCC [Ala>Ser] | Hb Mulhacen | HBA1:c.370G>T | α1 | Causative | α-chain variant | NG_000006.1 | 38215 |
| 3016 | CD 123 GCC>GTC [Ala>Val] | Hb Louisa | HBA1:c.371C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38216 |
| 2984 | CD124 TCC>TGC [Ser>Cys] | Hb Harehills | HBA1:c.374C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38219 |
| 2414 | CD 125 CTG>CCG [Leu>Pro] | Hb Quong Sze II | HBA1:c.377T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38222 |
| 738 | CD 126 GAC>CAC [Asp>His] | Hb Sassari | HBA1:c.379G>C | α1 | Causative | α-chain variant | NG_000006.1 | 38224 |
| 739 | CD 126 GAC>TΑC [Asp>Tyr] | Hb Montefiore | HBA1:c.379G>T | α1, α1 or α2 | Causative | α-chain variant | NG_000006.1 | 38224 |
| 2408 | CD 126 GAC>GCC [Asp>Ala] | Hb Verdun | HBA1:c.380A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38225 |
| 743 | CD 126 GAC>GAG [Asp>Glu] | Hb Burlington | HBA1:c.381C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38226 |
| 3380 | CD 127 AAG>GAG [Lys>Glu] | Hb Shantou | HBA1:c.382A>G | α1 | Causative | α-chain variant | NG_000006.1 | 38227 |
| 3789 | CD 127 AAG>CAG [Lys>Gln] | Hb Waikato | HBA1:c.382A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38227 |
| 411 | CD 129 CTG>CCG [Leu>Pro] | Hb Tunis-Bizerte | NM_000558.3(HBA1):c.389T>C | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38234 |
| 749 | CD 130 GCT>GTT [Ala>Val] | Hb Westborough | HBA1:c.392C>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38237 |
| 3281 | CD 130 (+T) | Hb Sichuan | HBA1:c.393_394insT | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38238 |
| 752 | CD 131 TCT>TTT | Hb Lusaka | HBA1:c.395C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38240 |
| 416 | CD 131 (+T) >175aa | Hb Pak Num Po | HBA1:c.396dup | α1 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38241 |
| 753 | CD 131 TCT>TC- | Hb Fez | HBA1:c.396delT | α1 | Causative | α-chain variant | NG_000006.1 | 38241 |
| 3695 | CD 131 TCT>TCC [Ser>Ser] | N/A | HBA1:c.396T>C | α1 | Neutral | N/A | NG_000006.1 | 38241 |
| 2323 | CD 132 GTG>ATG [Val>Met] | Hb Portimão | HBA1:c.397G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38242 |
| 3723 | CD 132 GTG>GCG [Val>Ala] | N/A | HBA1:c.398T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38243 |
| 4027 | CD 133 AGC>CGC [Ser>Arg] | Hb Val de Marne | HBA2:c.400A>C | α2 | Causative | α-chain variant | NG_000006.1 | 38245 |
| 4084 | CD 133-135 (-7 bp, -GCACCGT) | N/A | HBA1:c.401_407del | α1 | Causative | α-thalassaemia | NG_000006.1 | 38246 |
| 760 | CD 134 -C | Hb Senlis | HBA1:c.404delC | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38249 |
| 762 | CD 135 GTG>CTG [Val>Met] | Hb Trenton | HBA1:c.406G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38251 |
| 763 | CD 135 GTG>ATG [Val>Glu] | Hb Pavie | HBA1:c.407T>A | HBA2:c.407T>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 38252 |
| 3724 | CD 136 CTG>CAG [Leu>Gln] | N/A | HBA1:c.410T>A | α1 | Causative | α-chain variant | NG_000006.1 | 38255 |
| 767 | CD 137 ACC>CCC [Thr>Pro] | Hb Verona | HBA1:c.412A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38257 |
| 3802 | CD 138 TCC>GCC [Ser>Ala] | Hb Paynesville | HBA1:c.415T>G | α1 | Causative | α-chain variant | NG_000006.1 | 38260 |
| 769 | CD 138 TCC>TGC [Ser>Cys] | Hb Ecuador | HBA1:c.416C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38261 |
| 771 | CD 139 AAA>GAA [Ala>Glu] | Hb Hanamaki-1 | HBA1:c.418A>G | α1 | Causative | α-chain variant | NG_000006.1 | 38263 |
| 4017 | CD 139 AAA>TAA [Lys>STOP] (Tenerife) | Hb Nivaria | HBA1:c.418A>T | α1 | Causative | α-chain variant | NG_000006.1 | 38263 |
| 773 | CD 139 AAA>ACA [Lys>Thr] | Hb Tokoname | NM_000558.5(HBA1):c.419A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38264 |
| 776 | CD 140 TAC>CAC [Tyr>His] | Hb Ethiopia | NM_000558.5(HBA1):c.421T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38266 |
| 3972 | CD 140 TAC>TAA [Tyr>STOP] | Hb Natal | HBA1:c.423C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38268 |
| 779 | CD 141 CGT>GGT [Arg>Gly] | Hb J-Camagüey | NM_000558.3(HBA1):c.424C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38269 |
| 782 | CD 141 CGT>CTT [Arg>Leu] | Hb Legnano | HBA1:c.425G>T | α1 | Causative | α-chain variant | NG_000006.1 | 38270 |
| 783 | CD 141 CGT>CAT [Arg>His] | Hb Suresnes | NM_000558.3(HBA1):c.425G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38270 |
| 3302 | 3'UTR +46 C>A | N/A | HBA1:c.*46C>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38320 |
| 2225 | Poly A (G>A) AATAAAG>AATAAAA | N/A | HBA1:c.*96G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38370 |
| 3739 | TTS +23 (+T) | N/A | HBA1:c.*134_*135insT | α1 | Causative | α-thalassaemia | NG_000006.1 | 38408 |
| 3890 | CD 18 GGC>TGC [Gly>Cys] | Hb Jiujiang | HBA2:c.55G>T | α2 | Causative | α-chain variant | NG_000006.1 | 172967 |
| 1400 | Hb Lepore-Leiden | N/A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | ||
| 1525 | Belgian (Aγδβ)0 | N/A | NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | |
| 3955 | Siriraj I Gγ(Aγδβ)0 (~118 kb del) | N/A | N/A | Aγ, δ, β | Causative | δβ-thalassaemia | NG_000007.3 | |
| 1540 | Hispanic (εγδβ)0 | N/A | NC_000011.10:g.5279573_5319355del | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | |
| 1542 | Dutch I (εγδβ)0 | N/A | NC_000011.10:g.5229432_5329263del | βLCR, ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
| 1549 | Dutch IV | N/A | NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del | βLCR, ε, Aγ, Gγ, OR51B5, OR51B6 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
| 1550 | Dutch V | N/A | NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del | βLCR, OR51B5, OR51B6, OR51M1, OR51B2, OR51B4 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
| 2159 | (εγδβ)0 with α triplication | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | |
| 2418 | Swiss (εγδβ)0 | N/A | NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
| 2548 | Inv-Del English V | N/A | NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965 | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | |
| 3570 | 1.78Mb εγδβ(0) del (Bedouin) | N/A | NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
| 3578 | 2.2 Mb deletion | N/A | NC_000011.10:g.4052720_6253287del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
| 3606 | 177 Kb deletion | N/A | NC_000011.10:g.5241050_5418009del | βLCR, ε, Aγ, Gγ, pseudo β, OR51B5, OR51B6, OR51M1, OR51B2 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
| 3393 | 3.5 kb deletion (Thai, 3485 bp deletion) | N/A | NC_000011.10:g.5224302_5227791del3490bp | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | |
| 3826 | rs6578598 | N/A | NC_000011.10:g.5297978A>G | OR51AB1P-OR51B4 | Modifier | Severity | NG_000007.3 | |
| 3828 | rs449937 | N/A | NC_000011.10:g.5469115G>A | OR51B5 | Modifier | Severity | NG_000007.3 | |
| 3881 | rs3759071 | N/A | NC_000011.10:g.5270302G>A | NC_000011.10:g.5270302G>T | ε | Modifier | Hb F levels | NG_000007.3 | |
| 3882 | rs3813726 | N/A | NC_000011.10:g.5234759T>A | NC_000011.10:g.5234759T>C | δ | Modifier | Hb F levels | NG_000007.3 | |
| 1404 | (Hb Anti-Lepore Hong Kong) | Hb Hong Kong | NG_000007.3:g.63160_70572dup | δ, β | Causative | δ-chain variant | NG_000007.3 | |
| 1405 | (Hb Anti-Lepore P-Nilotic) | Hb P-Nilotic | NG_000007.3:g.63461_70874dup | δ, β | Causative | δ-chain variant | NG_000007.3 | |
| 3435 | Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH) | N/A | N/A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
| 3436 | Yugoslavian non-deletional HPFH | N/A | N/A | Aγ, Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
| 3112 | African II duplication | N/A | NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938 | ε, Aγ, Gγ, δ, β, pseudo β | Neutral | N/A | NG_000007.3 | |
| 3390 | βδβ hybrid | Hb Palencia | N/A | δ, β | Causative | β-chain variant | NG_000007.3 | 0 |
| 2378 | CD 6 GAG>CAG [Glu>Gln] | Hb A2-Ramallah | HBD:c.19G>C | δ | Causative | δ-chain variant | NG_000007.3 | 0 |
| 1502 | Italian 1 (HPFH-4) | N/A | N/A | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
| 1503 | Italian 2, Sicilian (HPFH-5) | N/A | NC_000011.10:g.59893_72818del | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
| 2497 | 49.98 kb (δβ)0 Indian del (HPFH-9) | N/A | NC_000011.10:g.5194285_5244267del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
| 2498 | 86.7 kb (Αγδβ)0 Indian del (HPFH-10) | N/A | NC_000011.10:g.5164124_5250830delinsTG | Aγ, δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
| 2550 | African I duplication | N/A | NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677 | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Neutral | N/A | NG_000007.3 | 0 |
| 291 | Czech (4237 bp deletion) | N/A | NG_000007.3:g.67258_71501del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
| 293 | Cape Verdean | N/A | NG_000007.3:g.71548_79271del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
| 294 | Asian Indian (10329 bp deletion) | N/A | NG_000007.3:g.(67531_67533)_(77874_77876)del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
| 295 | Australian (Anglo Saxon) (12023 bp deletion) | N/A | NC_000011.10:g.5215894_5227926del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
| 299 | Italian (~67 kb deletion) | N/A | N/A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
| 2123 | 7719 bp deletion | N/A | NG_000007.3:g.71550_79270del7719 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 0 |
| 1511 | East European (δβ)0 | N/A | NG_000007.3:g.61566_70708del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1514 | Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 | Turkish Inv/Del (δβ)0) | N/A | N/A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1515 | Turkish (δβ)0 (Turkish type 3 (δβ)0) | N/A | N/A | δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1516 | Leiden 7.4 kb (δβ)0 | N/A | NG_000007.3:g.(59658_64667)_(72019_81668)del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1517 | Thai 11.3 (δβ)0 | N/A | NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG | δ, β | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 0 |
| 1518 | Japanese 2 (δβ)0 | N/A | NG_000007.3:g.52036_78987del | δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1519 | Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0) | N/A | N/A | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1521 | Cantonese (Aγδβ)0 | N/A | N/A | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1522 | Malaysian-1 (Aγδβ)0 | N/A | N/A | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1528 | Yunnanese (Aγδβ)0 | N/A | NC_000011.10:g.5182845_5249973del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1531 | Canadian (Aγδβ)0 | N/A | NC_000011.10:g.5196589_5251715delinsTA | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1532 | Leiden 69.5 | N/A | NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 1533 | 49.3 kb Gγ(Aγδβ)0 Asian del | N/A | NC_000011.10:g.5201244_5250542del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 0 |
| 2419 | Senegalese δ(0)β(+) | N/A | NG_000007.3:g.(63154_63209)_(70570_70625)del7417 | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 0 |
| 1534 | Anglo-Saxon (εγδβ)0 | N/A | NC_000011.8:g.5204501_5300223del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1535 | Irish (εγδβ)0 | N/A | NC_000011.8:g.5110112_5312961del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1536 | Canadian (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1537 | Scottish - Irish | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1538 | English I (εγδβ)0 | N/A | N/A | βLCR, ε, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1539 | Mexican (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1541 | Croatian (εγδβ)0 | N/A | NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1543 | English II | N/A | NC_000011.10:g.5262849_5360616del | βLCR, ε | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1544 | English III | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1545 | English IV | N/A | NC_000011.10:g.5156866_5595894del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1546 | Chilean | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1547 | Dutch II | N/A | NC_000011.10:g.(?_4999945)_(5409809_5430440)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1 | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1548 | Dutch III | N/A | NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA | βLCR, ε, Aγ, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1551 | Dutch VI | N/A | NC_000011.10:g.(?_5227218)_(5373082_5382848)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1552 | Japanese | N/A | NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 1553 | French | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 2158 | Pakistani I | N/A | NC_000011.10:g.5194461_5700474delins[250inv] | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 2161 | French (εγδβ)0 insertion/deletion | N/A | NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv] | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 2163 | Norwegian (εγδβ)0 | N/A | NC_000011.10:g.5228098_5358569del | βLCR, ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 2167 | Asian Indian (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 2551 | Austrian I | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 3073 | Italian (εγδβ)0 deletion | N/A | NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] | ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 3340 | Brazilian (εγδβ)0 | N/A | NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2 | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
| 3825 | rs3888708 | N/A | NG_000007.3:g.466G>T | OR51AB1P-OR51B4 | Modifier | Severity | NG_000007.3 | 466 |
| 3824 | rs7933082 | N/A | NG_000007.3:g.2115C>G | OR51AB1P-OR51B4 | Modifier | Severity | NG_000007.3 | 2115 |
| 3577 | 59 Kb deletion | N/A | NC_000011.10:g.5236469_5295261del | βLCR, ε, Aγ, Gγ | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 2355 |
| 3935 | 12.4 kb Mediterranean deletion | N/A | NG_000007.3:g.2798_15161delinsAGAGCCCT | βLCR | Causative | β-thalassaemia | NG_000007.3 | 2798 |
| 2165 | Puerto Rican (εγδβ)0 | N/A | NG_000007.3:g.2904_25432del | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | 2904 |
| 3483 | CD 121 GAA>-AA | Hb Mahasarakham | HBB:c.364delG | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 6394 |
| 3107 | rs4601817 | N/A | NG_000007.3:g.6445T>C | βLCR | Modifier | Hb F levels, Severity | NG_000007.3 | 6445 |
| 2812 | rs11036639 | N/A | NG_000007.3:g.8340T>G | βLCR | Modifier | Hb F levels, Severity | NG_000007.3 | 8340 |
| 2566 | Caribbean | N/A | NG_000007.3:g.8510_13369del | βLCR | Causative | β-thalassaemia | NG_000007.3 | 8510 |
| 2950 | rs16912979 | N/A | NG_000007.3:g.9151A>G | βLCR | Modifier | Hb F levels | NG_000007.3 | 9151 |
| 3849 | ~72 kb εγδβ(0) del | N/A | NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 9260 |
| 2164 | Tennessean (εγδβ)0 | N/A | NG_000007.3:g.10054_21931del | βLCR | Causative | εγδβ-thalassaemia | NG_000007.3 | 10054 |
| 3106 | rs11036634 | N/A | NG_000007.3:g.10118G>A | βLCR | Modifier | Hb F levels, Severity | NG_000007.3 | 10118 |
| 2479 | Toledo (1992 bp deletion) | N/A | NG_000007.3:g.11835_13826del | βLCR | Causative | β-thalassaemia | NG_000007.3 | 11835 |
| 2792 | rs4910742 | N/A | NG_000007.3:g.12337C>T | βLCR | Modifier | Hb F levels, Abnormal red blood cell count | NG_000007.3 | 12337 |
| 3260 | rs7119428 | N/A | NG_000007.3:g.16766T>G | βLCR | Modifier | Hb F levels | NG_000007.3 | 16766 |
| 3261 | rs9736333 | N/A | NG_000007.3:g.16784A>G | βLCR | Modifier | Hb F levels | NG_000007.3 | 16784 |
| 3936 | Italian HS1 | N/A | NG_000007.3:g.21088_24120del | βLCR | Neutral | N/A | NG_000007.3 | 21088 |
| 2718 | rs7130110 | N/A | NG_000007.3:g.22742C>G | ε | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_000007.3 | 22742 |
| 2813 | rs11036562 | N/A | NG_000007.3:g.24701G>T | ε | Modifier | Hb F levels, Severity | NG_000007.3 | 24701 |
| 3820 | rs3759069 | N/A | NG_000007.3:g.27016T>A | ε | Modifier | Severity | NG_000007.3 | 27016 |
| 2727 | rs3759070 | N/A | NG_000007.3:g.27218G>C | ε | Modifier | Hb F levels, Severity | NG_000007.3 | 27218 |
| 3270 | Chinese I (εγδβ)0 | N/A | NC_000011.10:g.5036736_5270337del | ε, Aγ, Gγ, δ, β, pseudo β, OR51V1 | Causative | εγδβ-thalassaemia | NG_000007.3 | 27279 |
| 3573 | rs3834466 | N/A | NG_000007.3:g.27282dup | β | Neutral | N/A | NG_000007.3 | 27282 |
| 3868 | >35.3 Kb deletion | N/A | NG_000007.3:g.(21655_27675)_(63032_64586)del | ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 27675 |
| 3185 | rs67385638 | N/A | NG_000007.3:g.28476G>C | ε | Modifier | Hb F levels | NG_000007.3 | 28476 |
| 3880 | rs72872549 | N/A | NC_000011.10:g.5268823C>T | ε | Modifier | Hb F levels | NG_000007.3 | 28793 |
| 2824 | rs4910740 | N/A | NG_000007.3:g.31556C>T | HBG2-HBE1 | Modifier | Hb F levels, Severity | NG_000007.3 | 31556 |
| 2814 | rs10837707 | N/A | NG_000007.3:g.32038A>G | HBG2-HBE1 | Modifier | Hb F levels, Severity | NG_000007.3 | 32038 |
| 3417 | rs4348933 (rs11036509) | N/A | NG_000007.3:g.33868T>C | NG_000007.3:g.33868T>G | HBG2-HBE1 | Modifier | Hb F levels | NG_000007.3 | 33868 |
| 3819 | rs7480802 | N/A | NG_000007.3:g.36338A>G | HBG2-HBE1 | Modifier | Severity | NG_000007.3 | 36338 |
| 3818 | rs10160820 | N/A | NG_000007.3:g.36389T>G | HBG2-HBE1 | Modifier | Severity | NG_000007.3 | 36389 |
| 2825 | rs10128653 | N/A | NG_000007.3:g.41385T>G | Gγ | Modifier | Hb F levels | NG_000007.3 | 41385 |
| 3869 | >29.5 Kb duplication | N/A | NG_000007.3:g.(27675_41485)_(71150_72080)dup | Aγ, Gγ, δ, β, pseudo β | Causative | β-thalassaemia | NG_000007.3 | 41485 |
| 3596 | Gγ duplication (-Gγ-Gγ-, HBG2 duplication) | N/A | NG_000007.3:g.(41526_42954)_(48036_49186)del | Gγ | Neutral | N/A | NG_000007.3 | 41526 |
| 3411 | rs2855121 | N/A | NG_000007.3:g.41555G>A | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 41555 |
| 2826 | rs2855122 | N/A | NG_000007.3:g.41610G>A | Gγ | Modifier | Hb F levels | NG_000007.3 | 41610 |
| 2874 | rs2855123 | N/A | NG_000007.3:g.41768T>A | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 41768 |
| 3816 | rs2011051 | N/A | NG_000007.3:g.42028C>A | Gγ | Modifier | Severity | NG_000007.3 | 42028 |
| 1554 | -567 T>G (Iranian non-deletional HPFH) | N/A | HBG2:c.-620T>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42268 |
| 3272 | -533 (-ATAAG) | N/A | HBG2:c.-533_-529delATAAG | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42302 |
| 1555 | -202 C>G (Black non-deletional HPFH) | N/A | HBG2:c.-255C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42633 |
| 3943 | -200 (+CC) | N/A | HBG2:c.-253_-254dup | Gγ | Causative | HPFH | NG_000007.3 | 42634 |
| 1556 | -200 +C (Tunisian non-deletional HPFH) | N/A | HBG2:c.-253dup | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42635 |
| 2300 | -197 C>T | N/A | HBG2:c.-250c>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42638 |
| 1557 | -196 C>T (Greek non-deletional HPFH) | N/A | HBG2:c.-249C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42639 |
| 1558 | -175 T>C (Black/Sardinian/British non-deletional HPFH) | N/A | HBG2:c.-228T>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42660 |
| 2127 | -158 C>T (XmnI, rs7482144) | N/A | NG_000007.3:g.42677C>T | Gγ | Modifier | Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia, Severity | NG_000007.3 | 42677 |
| 3790 | -125 C>T | N/A | HBG2:c.-177C>T | Gγ | Causative | HPFH | NG_000007.3 | 42710 |
| 1559 | -114 C>G (Australian non-deletional HPFH) | N/A | HBG2:c.-167C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
| 1560 | -114 C>A (Algerian non-deletional HPFH) | N/A | HBG2:c.-167C>A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
| 1561 | -114 C>T (Japanese non-deletional HPFH) | N/A | HBG2:c.-167C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
| 1562 | -110 A>C (Czech non-deletional HPFH) | N/A | HBG2:c.-163A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42725 |
| 1563 | -109 G>T (Greek non-deletional HPFH) | N/A | HBG2:c.-162A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42726 |
| 1564 | -37 A>T (Belgian non-deletional HPFH) | N/A | HBG2:c.-90A>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42798 |
| 3162 | rs1894397 | N/A | NG_000007.3:g.42859G>A | Gγ | Modifier | Hb F levels | NG_000007.3 | 42859 |
| 1406 | CD 1 GGT>TGT | Hb F-Malaysia | HBG2:c.4G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42891 |
| 2449 | CD 1 GGT>AGT [Gly>Ser] | Hb F-Montchat | HBG2:c.4G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42891 |
| 3319 | CD 1 GGT>GAT [Gly>Asp] | Hb F-Hayward | HBG2:c.5G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42892 |
| 1407 | CD 5 GAG>GGG | Hb F-Meinohama | HBG2:c.17A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42904 |
| 1409 | CD 7 GAC>AAC | Hb F-Auckland | HBG2:c.22G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42909 |
| 1410 | CD 8 AAG>CAG or GAG | Hb F-Albaicin | HBG2:c.25A>C | HBG2:c.25A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42912 |
| 1412 | CD 12 ACA>AGA [Thr>Arg] | Hb F-Heather | HBG2:c.38C>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42925 |
| 3804 | CD 13 AGC>AGA [Ser>Arg] | Hb F-Millennium Park | HBG2:c.42C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42929 |
| 1413 | CD 15 TGG>CGG | Hb F-Catalonia | HBG2:c.46T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42933 |
| 1414 | CD 16 GGC>CGC | Hb F-Melbourne | HBG2:c.49G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42936 |
| 1415 | CD 17 AAG>AAC or AAT | Hb F-Clamart | HBG2:c.54G>C | HBG2:c.54G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42941 |
| 2149 | N/A (Hb Gγ-β Ulsan) | Hb Ulsan | NG_000007.3:g.42946_70654del | Aγ, Gγ, δ, β, pseudo β | Causative | β-chain variant | NG_000007.3 | 42946 |
| 1416 | CD 19 AAT>AAA or AAG | Hb F-Ouled Rabah | HBG2:c.60T>A | HBG2:c.60T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42947 |
| 1417 | CD 20 GTG>GCG | Hb F-Bron | HBG2:c.62T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42949 |
| 1418 | CD 21 GAA>AAA | Hb F-Saskatoon | HBG2:c.64G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42951 |
| 1419 | CD 21 GAA>CAA | Hb F-Fuchu | HBG2:c.64G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42951 |
| 4099 | CD 22 GAT>CAT [Asp>His] | Hb F-Nancy | HBG2:c.67G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42954 |
| 1420 | CD 22 GAT>GTT | Hb F-Granada | HBG2:c.68A>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42955 |
| 1421 | CD 22 GAT>GGT | Hb F-Urumqi | HBG2:c.68A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42955 |
| 3566 | CD 24 GGA>GAA [Gly>Glu] | Hb F-Wentzville | HBG2:c.74G>A | Gγ | Causative | γ-chain variant, Haemolytic anaemia | NG_000007.3 | 42961 |
| 1422 | CD 25 GGA>GAA | Hb F-Cosenza | HBG2:c.77G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42964 |
| 1423 | CD 26 GAA>AAA | Hb F-Oakland | HBG2:c.79G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42966 |
| 3322 | CD 28 CTG>ATG [Leu>Met] | Hb F-M Viseu | HBG2:c.85C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42972 |
| 1424 | CD 34 GTC>ATC | Hb F-Tokyo | HBG2:c.103G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43112 |
| 2428 | CD 37 TGG>GGG [Trp>Gly] | Hb F-Cobb II | HBG2:c.112T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43121 |
| 1425 | CD 38 ACC>CCC | Hb F-Bonheiden | HBG2:c.115A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43124 |
| 1426 | CD 40 AGG>GGG | Hb F-Veleta | HBG2:c.121A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43130 |
| 1427 | CD 40 AGG>AAG | Hb F-Austell | HBG2:c.122G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43131 |
| 2427 | CD 41 TTC>CTC [Phe>Leu] | Hb F-Avellino | HBG2:c.124T>C | Gγ | Causative | γ-chain variant, Hb F levels | NG_000007.3 | 43133 |
| 1428 | CD 41 TTC>TCC | Hb F-Cincinnati | HBG2:c.125T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43134 |
| 1429 | CD 44 AGC>CGC | Hb F-Lodz | HBG2:c.133A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43142 |
| 3608 | CD 50 (TCT>TGT);CD 75(ATA>ACA) | Hb F-Madrid | HBG2:c.[152C>G;227T>C] | Gγ | Causative | γ-chain variant | NG_000007.3 | 43161 |
| 1430 | CD 55 ATG>AGG | Hb F-Kingston | HBG2:c.167T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43176 |
| 1431 | CD 59 AAA>CAA | Hb F-Sacromonte | HBG2:c.178A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43187 |
| 1432 | CD 59 AAA>GAA | Hb F-Emirates | HBG2:c.178A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43187 |
| 2552 | CD 59 AAA>AGA [Lys>Arg] | Hb F-Augusta GA | HBG2:c.179A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43188 |
| 1433 | CD 63 CAT>TAT | Hb F-M-Osaka | HBG2:c.190C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43199 |
| 3369 | CD 63 CAT>CTT [His>Leu] | Hb F-Circleville | HBG2:c.191A>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43200 |
| 2471 | CD 64 GGC>GAC [Gly>Asp] | Hb F-Turritana | HBG2:c.194G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43203 |
| 1434 | CD 65 AAG>AAT or AAC | Hb F-Clarke | HBG2:c.198G>C | HBG2:c.198G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43207 |
| 1435 | CD 66 AAG>CAG | Hb F-Brooklyn | HBG2:c.199A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43208 |
| 1436 | CD 66 AAG>AGG | Hb F-Shanghai | HBG2:c.200A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43209 |
| 2435 | CD 67 GTG>ATG [Val>Met] (Hb F-Heuried) | Hb Toms River | HBG2:c.202G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43211 |
| 1437 | CD 72 GGA>CGA | Hb F-Minoo | HBG2:c.217G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43226 |
| 1438 | CD 73 GAT>GCT | Hb F-Joanopolis | HBG2:c.221A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43230 |
| 1439 | CD 75 ATA>GTA | Hb F-Coigneres | HBG2:c.226A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43235 |
| 1440 | CD 75 ATA>ACA | Hb F-Lesvos | HBG2:c.227T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43236 |
| 1441 | CD 77 CAC>CGC | Hb F-Kennestone | HBG2:c.233A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43242 |
| 1442 | CD 79 GAT>CAT [Asp>His] | Hb F-Saint-Etienne | HBG2:c.238G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43247 |
| 3803 | CD 79 GAT>GGT [Asp>Gly] | Hb F-Northerly Island | HBG2:c.239A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43248 |
| 1443 | CD 80 GAT>AAT | Hb F-Marietta | HBG2:c.241G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43250 |
| 1444 | CD 80 GAT>TAT [Asp>Tyr] | Hb F-Paulinia | HBG2:c.241G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43250 |
| 3389 | CD 89 AGT>AAT [Ser>Asn] | Hb F-Careggi | HBG2:c.269G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43278 |
| 1445 | CD 92 CAC>TAC | Hb F-M-Fort Ripley | HBG2:c.277C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43286 |
| 2395 | CD 93 TGT>CGT [Cys>Arg] | Hb F-Monserrato-Sassari | HBG2:c.280T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43289 |
| 1446 | CD 94 GAC>AAC | Hb F-Columbus-GA | HBG2:c.283G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43292 |
| 1447 | CD 97 CAT>CGT [His>Arg] | Hb F-Lyon | HBG2:c.293A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43302 |
| 1448 | CD 101 GAG>CAG [Glu>Gln] | Hb F-Zheijang | HBG2:c.304G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
| 1449 | CD 101 GAG>AAG | Hb F-La Grange | HBG2:c.304G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
| 1450 | CD 102 AAC>ACC [Asn>Thr] | Hb F-Sarajevo | HBG2:c.308A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43317 |
| 1451 | CD 104 AAG>AAC | Hb F-Macedonia-II | HBG2:c.315G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43324 |
| 2459 | CD 105 CTC>CAC [Leu>His] | Hb F-Brugine/Feldkirch | HBG2:c.317T>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43326 |
| 3959 | HBG1-HBG2 deletion | N/A | NG_000007.3:g.43348_48271del | Aγ, Gγ | Neutral | N/A | NG_000007.3 | 43348 |
| 3815 | rs2070973 | N/A | NG_000007.3:g.43439A>G | Gγ | Modifier | Severity | NG_000007.3 | 43439 |
| 3161 | rs11036475 | N/A | NG_000007.3:g.43606C>T | Gγ | Modifier | Hb F levels | NG_000007.3 | 43606 |
| 3160 | rs11036474 | N/A | NG_000007.3:g.43668A>G | Gγ | Modifier | Hb F levels | NG_000007.3 | 43668 |
| 3835 | 78.9 kb Gγ(Aγδβ)0 del | N/A | NC_000011.10:g.5169895_5248821delins5216274_5216309 | Aγ, δ, β, pseudo β, OR52Z1-OR51V1 | Causative | δβ-thalassaemia | NG_000007.3 | 43875 |
| 2804 | rs2070972 | N/A | NG_000007.3:g.44129T>G | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 44129 |
| 1452 | CD 108 AAT>AAA [Asn>Lys] | Hb F-Ube | HBG1:c.327T>A | HBG2:c.327T>A | Aγ or Gγ | Causative | γ-chain variant | NG_000007.3 | 44222, 49140 |
| 1453 | CD 117 CAT>CGT | Hb F-Malta-I | HBG2:c.353A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44248 |
| 1454 | CD 118 TTC>CTC | Hb F-Calabria | HBG2:c.355T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44250 |
| 3891 | CD 119 GGC>CGC [Gly>Arg] | Hb F-Pill Hill | HBG2:c.358G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44253 |
| 1455 | CD 120 AAA>CAA | Hb F-Caltech | HBG2:c.361A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44256 |
| 1456 | CD 121 GAA>AAA | Hb F-Carlton | HBG2:c.364G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44259 |
| 1457 | CD 125 GAG>GCG | Hb F-Port Royal | HBG2:c.377A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44272 |
| 1458 | CD 130 TGG>GGG | Hb F-Poole | HBG2:c.391T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44286 |
| 2450 | CD 136 GGA>GAA [Gly>Glu] | Hb F-Privas | HBG2:c.410G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44305 |
| 3950 | CD 140 GCC>GAC [Ala>Asp] | Hb F-Wyandotte | HBG2:c.422C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44317 |
| 1459 | CD 146 CAC>TAC | Hb F-Onoda | HBG2:c.439C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 44334 |
| 2394 | CD 146 CAC>CGC [His>Arg] | Hb F-Istambul | HBG2:c.440A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44335 |
| 3813 | rs2236794 | N/A | NG_000007.3:g.44579G>A | Gγ | Modifier | Severity | NG_000007.3 | 44579 |
| 2803 | rs2855125 | N/A | NG_000007.3:g.45159A>C | HBG1-HBG2 | Modifier | Hb F levels, Severity | NG_000007.3 | 45159 |
| 3105 | rs2255519 | N/A | NG_000007.3:g.45305C>T | Gγ | Modifier | Hb F levels | NG_000007.3 | 45305 |
| 1524 | Turkish (Aγδβ)0 | N/A | NG_000007.3:g.45410_81665del36256 | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 45410 |
| 1504 | SE Asian, Thai (Aγδβ)0 (HPFH-6) | N/A | NC_000011.10:g.5172745_5252029 | Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1 | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 45587 |
| 2802 | rs2855126 | N/A | NG_000007.3:g.45699G>C | HBG1-HBG2 | Modifier | Hb F levels, Hyperuricemia, Severity | NG_000007.3 | 45699 |
| 1520 | German (Aγδβ)0 | N/A | NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 45922 |
| 3812 | rs2855036 | N/A | NG_000007.3:g.46164G>A | Aγ | Modifier | Severity | NG_000007.3 | 46164 |
| 2801 | rs2855038 | N/A | NG_000007.3:g.46692A>G | Aγ | Modifier | Hb F levels, Severity | NG_000007.3 | 46692 |
| 3104 | rs2855039 | N/A | NG_000007.3:g.47175G>A | Aγ | Modifier | Hb F levels | NG_000007.3 | 47175 |
| 1523 | Malaysian-2 (Aγδβ)0 | N/A | NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 47376 |
| 3920 | -368 C>A | N/A | HBG1:c.-420C>A | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47391 |
| 3887 | -365 G>C | N/A | HBG1:c.-417G>C | Aγ | Neutral | N/A | NG_000007.3 | 47394 |
| 4074 | -352 A>G | N/A | HBG1:c.-404A>G | Aγ | Neutral | N/A | NG_000007.3 | 47407 |
| 3865 | -219 (+AGCA) | N/A | HBG1:c.-272_-275dup | Aγ | Causative | HPFH | NG_000007.3 | 47537 |
| 1565 | -211 C>T (Venezuelan non-deletional HPFH) | N/A | HBG1:c.-264C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47548 |
| 1566 | -202 C>T (Black non-deletional HPFH) | N/A | HBG1:c.-255C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47557 |
| 1567 | -201 C>T (Greek non-deletional HPFH) | N/A | HBG1:c.-254C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47558 |
| 1568 | -198 T>C (British non-deletional HPFH) | N/A | HBG1:c.-251T>C | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47561 |
| 2301 | -197 C>T | N/A | HBG1:c.-250C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47562 |
| 1569 | -196 C>T (Italian/Chinese non-deletional HPFH) | N/A | HBG1:c.-249C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47563 |
| 1570 | -195 C>G (Brazilian non-deletional HPFH) | N/A | HBG1:c.-248C>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47564 |
| 1571 | -175 T>C (Black non-deletional HPFH) | N/A | HBG1:c.-228T>C | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47584 |
| 1572 | -158 C>T (Cretan non-deletional HPFH) | N/A | HBG1:c.-211C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47601 |
| 1573 | -117 G>A (Greek/Italian/Black non-deletional HPFH) | N/A | HBG1:c.-170G>A | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47642 |
| 1574 | -114 to -102 (13 bp deletion , Black non-deletional HPFH) | N/A | HBG1:c.-167_-155delCAATAGCCTTGAC | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
| 1575 | -114 C>T (Georgian non-deletional HPFH) | N/A | HBG1:c.-167C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
| 3025 | -114 C>G (African-American/Hispanic non-deletional HPFH) | N/A | HBG1:c.-167C>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
| 2302 | -113 A>G | N/A | HBG1:c.-166A>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47646 |
| 2945 | rs368698783 (Aγ(+25 G>A)) | N/A | NG_000007.3:g.47783G>A | Aγ | Modifier | Hb F levels | NG_000007.3 | 47783 |
| 1460 | CD 2 CAT>CAG | Hb F-Macedonia-I | HBG1:c.9T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47820 |
| 1461 | CD 5 GAG>AAG | Hb F-Texas-I | HBG1:c.16G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47827 |
| 1408 | CD 6 GAG>AAG | Hb F-Texas-II | HBG1:c.19G>A | HBG2:c.19G>A | Aγ or Gγ | Causative | γ-chain variant | NG_000007.3 | 47830 |
| 1462 | CD 6 GAG>CAG | Hb F-Pordenone | HBG1:c.19G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 47830 |
| 1463 | CD 6 GAG>GGG | Hb F-Kotobuki | HBG1:c.20A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47831 |
| 1411 | CD 12 ACA>AAA [Thr>Lys] | Hb F-Alexandra | HBG1:c.38C>A | HBG2:c.38C>A | Aγ or Gγ | Causative | γ-chain variant | NG_000007.3 | 47849 |
| 1464 | CD 12 ACA>AGA | Hb F-Calluna | HBG1:c.38C>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47849 |
| 3320 | CD 16 GGC>GAC [Gly>Asp] | Hb F-Chori-I | HBG1:c.50G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47861 |
| 1465 | CD 22 GAT>AAT [Asp>Asn] | Hb F-Beni Khirane | HBG1:c.67G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47878 |
| 1466 | CD 22 GAT>GGT | Hb F-Kuala Lumpur | HBG1:c.68A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 47879 |
| 1467 | CD 23 (-GCT) | Hb F-Mauritius | HBG1:c.70_72del | Aγ | Causative | γ-chain variant | NG_000007.3 | 47881 |
| 1468 | CD 25 GGA>CGA | Hb F-Xinjiang | HBG1:c.76G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 47887 |
| 3321 | CD 29 GGA>GAA [Gly>Glu] | Hb F-Chori-II | HBG1:c.89G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 47900 |
| 1469 | CD 36 CCA>CGA | Hb F-Pendergrass | HBG1:c.110C>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48043 |
| 1470 | CD 37 TGG>GGG | Hb F-Cobb | HBG1:c.112T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48045 |
| 1471 | CD 39 CAG>CGG | Hb F-Bonaire-GA | HBG1:c.119A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48052 |
| 1472 | CD 40 AGG>AAG | Hb F-Woodstock | HBG1:c.122G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48055 |
| 1473 | CD 43 GAC>AAC | Hb F-Fukuyama | HBG1:c.130G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48063 |
| 1474 | CD 53 GCC>GAC | Hb F-Beech Island | HBG1:c.161C>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48094 |
| 1530 | Italian (Aγδβ)0 | N/A | NC_000011.10:g.5194458_5249516del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 48100 |
| 1475 | CD 61 AAG>GAG | Hb F-Jamaica | HBG1:c.184A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48117 |
| 3917 | CD 67 GTG>ATG [Val>Met] | Hb Toms River | HBG1:c.202G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48135 |
| 1476 | CD 72 GGA>CGA | Hb F-Iwata | HBG1:c.217G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 48150 |
| 1477 | CD 73 GAT>CAT | Hb F-Xin-Su | HBG1:c.220G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 48153 |
| 1478 | CD 73 GAT>AAT | Hb F-Forest Park | HBG1:c.220G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48153 |
| 1479 | CD 75 ATA>ACA | Hb F-Sardinia (AgammaT) | HBG1:c.227T>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 48160 |
| 1480 | CD 79 GAT>AAT | Hb F-Dammam | HBG1:c.238G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48171 |
| 1481 | CD 80 GAT>AAT | Hb F-Yamaguchi | HBG1:c.241G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 48174 |
| 1482 | CD 80 GAT>TAT [Asp>Tyr] | Hb F-Victoria Jubilee | HBG1:c.241G>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 48174 |
| 1498 | (HPFH-7, Kenya) | Hb Kenya | NG_000007.3:g.48194_70985del | Aγ, δ, β, pseudo β | Causative | β-chain variant, Hb F levels | NG_000007.3 | 48194 |
| 2415 | CD 91 CTG>CGG [Leu>Arg] | Hb F-Moyen-Orient | HBG1:c.275T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48208 |
| 1483 | CD 97 CAT>CGT | Hb F-Dickinson | HBG1:c.293A>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 48226 |
| 3158 | rs11036455 | N/A | NG_000007.3:g.48428T>C | Aγ | Modifier | Hb F levels | NG_000007.3 | 48428 |
| 1527 | Chinese (Aγδβ)0 | N/A | NC_000011.10:g.5169918_5248821del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 48795 |
| 3814 | rs2187608 | N/A | NG_000007.3:g.48915C>G | Aγ | Modifier | Severity | NG_000007.3 | 48915 |
| 1526 | Black (Aγδβ)0 | N/A | NC_000011.10:g.5212727_5248576del | Aγ, δ, β, pseudo β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 49040 |
| 3574 | rs28440105 | N/A | NG_000007.3:g.49047T>G | NG_000007.3:g.49047T>A | Aγ | Neutral | N/A | NG_000007.3 | 49047 |
| 2556 | CD 113 GTT>ATT [Val>Ile] | Hb F-Sykesville MD | HBG1:c.340G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49153 |
| 1484 | CD 119 GGC>AGC [Gly>Ser] | Hb F-Osilo | HBG1:c.358G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49171 |
| 1485 | CD 121 GAA>AAA [Glu>Lys] (Hb F-Siena) | Hb F-Hull | HBG1:c.364G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49177 |
| 1487 | CD 121 GAA>CAA | Hb F-Campinas | HBG1:c.364G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 49177 |
| 2396 | CD 121 GAA>GTA [Glu>Val] | Hb F-Salamanque | HBG1:c.365A>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 49178 |
| 2453 | CD 125 GAG>GCG [Glu>Ala] | Hb F-Port Royal II | HBG1:c.377A>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 49190 |
| 1488 | CD 128 GCT>ACT | Hb F-Baskent | HBG1:c.385G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49198 |
| 1489 | CD 131 CAG>CAT [Gln>His] | Hb F-Oman | HBG1:c.396G>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 49209 |
| 1490 | CD 134 GTG>ATG | Hb F-Jiangsu | HBG1:c.403G>A | Aγ | Causative | γ-chain variant | NG_000007.3 | 49216 |
| 1491 | CD 136 GCA>TCA | Hb F-Porto Torres | HBG1:c.409G>T | Aγ | Causative | γ-chain variant | NG_000007.3 | 49222 |
| 1492 | CD 136 GCA>GGA | Hb F-Charlotte | HBG1:c.410C>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 49223 |
| 3892 | CD 139 AGT>AGG [Ser>Arg] | Hb F-Streeterville | HBG1:c.420T>G | Aγ | Causative | γ-chain variant | NG_000007.3 | 49233 |
| 3159 | rs201642811 | N/A | NG_000007.3:g.49274T>G | Aγ | Modifier | Hb F levels | NG_000007.3 | 49274 |
| 2800 | rs916111 | N/A | NG_000007.3:g.49503A>T | Aγ | Modifier | Hb F levels, Severity | NG_000007.3 | 49503 |
| 3103 | rs10488676 | N/A | NG_000007.3:g.50049C>T | Aγ | Modifier | Hb F levels | NG_000007.3 | 50049 |
| 1506 | Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del) | N/A | NC_000011.10:g.5214461_5247124del | δ, β, pseudo β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 50492 |
| 1508 | Japanese (δβ)0 | N/A | NC_000011.10:g.5132468_5246133del | δ, β, pseudo β | Causative | δβ-thalassaemia | NG_000007.3 | 51483 |
| 3845 | rs7924684 | N/A | NG_000007.3:g.52118G>A | BGLT3 | Modifier | Hb F levels | NG_000007.3 | 52118 |
| 3811 | rs11036431 | N/A | NG_000007.3:g.53166C>T | pseudo β | Modifier | Severity | NG_000007.3 | 53166 |
| 1501 | Indian HPFH-3 | N/A | NC_000011.10:g.5194459_5244226del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 53390 |
| 2815 | rs2071348 | N/A | NG_000007.3:g.54700A>C | pseudo β | Modifier | Hb F levels, Severity | NG_000007.3 | 54700 |
| 1500 | Ghanaian (HPFH-2) | N/A | NC_000011.10:g.5158438_5242749del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 54867 |
| 2827 | rs16912210 | N/A | NG_000007.3:g.54993T>C | pseudo β | Modifier | Hb F levels | NG_000007.3 | 54993 |
| 2128 | rs10128556 | N/A | NG_000007.3:g.55163G>A | pseudo β | Modifier | HPFH, Hb F levels, Severity | NG_000007.3 | 55163 |
| 2156 | Algerian HPFH deletion | N/A | NG_000007.3:g.57141_81002del; 81008delA | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 57141, 81008 |
| 2155 | French West-Indies deletion/insertion (French West-Indies HPFH deletion) | N/A | NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 57155 |
| 110 | IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0) | N/A | NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 57237, 70691 |
| 1497 | Corfu (δ)0 (7.2kb Corfu deletion) | N/A | NG_000007.3:g.57237_64443del7207 | δ | Causative | δ-thalassaemia | NG_000007.3 | 57237 |
| 3971 | Tunisian (δβ)0 | N/A | NG_000007.3:g.58253_72837del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 58253 |
| 2870 | rs968856 | N/A | NG_000007.3:g.58270A>G | HBD-HBBP1 | Modifier | Hb F levels | NG_000007.3 | 58270 |
| 3575 | rs968857 | N/A | NG_000007.3:g.58388A>T | NG_000007.3:g.58388A>G | HBD-HBBP1 | Neutral | N/A | NG_000007.3 | 58388 |
| 2811 | rs2105819 | N/A | NG_000007.3:g.59119C>G | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 59119 |
| 1499 | Black (HPFH-1) | N/A | NC_000011.10:g.5153222_5238138delinsAAATA | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 59478 |
| 2828 | rs4910736 | N/A | NG_000007.3:g.59857G>T | HBD-HBBP1 | Modifier | Hb F levels | NG_000007.3 | 59857 |
| 2810 | rs4910543 | N/A | NG_000007.3:g.60019C>G | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60019 |
| 2809 | rs4402323 | N/A | NG_000007.3:g.60254G>A | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60254 |
| 2871 | rs4283007 | N/A | NG_000007.3:g.60356T>A | HBD-HBBP1 | Modifier | Hb F levels | NG_000007.3 | 60356 |
| 1509 | Spanish (δβ)0 | N/A | NG_000011.10:g.5144331_5237241del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 60375 |
| 1510 | Black (δβ)0 | N/A | NG_000007.3:g.(60530_60730)_(72351_72551)del11822 | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 60530 |
| 2808 | rs4320977 | N/A | NG_000007.3:g.60684T>C | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60684 |
| 2807 | rs10837643 | N/A | NG_000007.3:g.60808A>T | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60808 |
| 2806 | rs3759074 | N/A | NG_000007.3:g.61068C>T | δ | Modifier | Hb F levels, Severity | NG_000007.3 | 61068 |
| 2154 | French deletion/insertion (French HPFH deletion) | N/A | NG_000007.3:g.[61399_61400insC; 61402_81144del] | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 61402 |
| 2799 | rs3813727 | N/A | NG_000007.3:g.62934T>C | δ | Modifier | Hb F levels, Severity | NG_000007.3 | 62934 |
| 3601 | -130 A>G | N/A | HBD:c.-180A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 63003 |
| 3223 | CAP +48 (A>T) | N/A | HBD:c.-6A>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63019 |
| 2202 | CAP +53 (G>A) | N/A | HBD:c.-1G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63024 |
| 1321 | -80 (G>A) | N/A | HBD:c.-130G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63053 |
| 1322 | -77 T>C | N/A | HBD:c.-127T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63056 |
| 1323 | -76 (A>T) | N/A | HBD:c.-126A>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63057 |
| 1324 | -68 (C>T) | N/A | HBD:c.-118C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63065 |
| 1325 | -65 (A>G) | N/A | HBD:c.-115A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 63068 |
| 1326 | -55 (T>C) | N/A | HBD:c.-105T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63078 |
| 3602 | -44 G>A | N/A | HBD:c.-94G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63089 |
| 1327 | -36 (C>A) | N/A | HBD:c.-86C>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63097 |
| 4096 | Hb Anti-Lepore Laibin | Hb Anti-Lepore Laibin | NG_000007.3:g.63100_70511dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63100 |
| 1328 | -31 (A>G) | N/A | HBD:c.-81A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 63102 |
| 1329 | -30 T>C | N/A | HBD:c.-80T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63103 |
| 3964 | Hb Anti-Lepore Liuzhou | N/A | NG_000007.3:g.63154_70565dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63154 |
| 3792 | N/A | Hb Lepore-Hong Kong | NG_000007.3:g.63154_70565del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 63154 |
| 1330 | Init CD ATG>ATA [Met>Ile] | N/A | HBD:c.3G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63185 |
| 1347 | CD 1 GTG>GCG | Hb A2-Niigata | HBD:c.5T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63187 |
| 2328 | CD 2 CAT>AAT [His>Asn] | Hb A2-Calderdale | HBD:c.7C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63189 |
| 1348 | CD 2 CAT>CTT | Hb A2-Catania | HBD:c.8A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63190 |
| 1349 | CD 2 CAT>CGT | Hb A2-Sphakiá | HBD:c.8A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63190 |
| 3307 | N/A | Hb Lepore Rochester-MN | NG_000007.3:g.[63191_70603dup;63291_70703del] | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63191 |
| 3366 | CD 3 CTG>CCG [Leu>Pro] | Hb A2-Sile | HBD:c.11T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63193 |
| 1331 | CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero) | N/A | HBD:c.14C>T | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63196 |
| 1350 | CD 4 ACT>AGT [Thr>Ser] | Hb A2-Acacias | HBD:c.14C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63196 |
| 3617 | CD 5 CCT>ACT [Pro>Thr] | Hb A2-Partinico | HBD:c.16C>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63198 |
| 3231 | CD 7 (-3bp): (-GAG) | N/A | HBD:c.22_24delGAG | δ | Causative | δ-thalassaemia | NG_000007.3 | 63204 |
| 3336 | CD 7 GAG>TAG [Glu>STOP] | N/A | HBD:c.22G>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63204 |
| 4035 | CD 7 GAG>AAG [Glu>Lys] | Hb A2-Zhengzhou | HBD:c.22G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63204 |
| 1351 | CD 7 GAG>GCG [Glu>Ala] | Hb A2-Udine | HBD:c.23A>C | δ | Causative | δ-chain variant | NG_000007.3 | 63205 |
| 2325 | CD 7 GAG>GAC [Glu>Asp] | Hb A2-Pordenone | HBD:c.24G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63206 |
| 1352 | CD 8 AAG>GAG [Lys>Glu] | Hb A2-Toranomon | HBD:c.25A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63207 |
| 4030 | CD 8 AAG>AAC [Lys>Asn] | Hb A2-Hengyang | HBD:c.27G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63209 |
| 3243 | CD 10 GCT>CCT [Ala>Pro] | Hb A2-Guangzhou | HBD:c.31G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63213 |
| 3232 | CD 10 GCT>-CT | N/A | HBD:c.31delG | δ | Causative | δ-thalassaemia | NG_000007.3 | 63213 |
| 3496 | CD 10 GCT>GTT [Ala>Val] | Hb A2-Canakkale | HBD:c.32C>T | δ | Causative | δ-chain variant | NG_000007.3 | 63214 |
| 1353 | CD 11 GTC>GGC | Hb A2-Pylos | HBD:c.35T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63217 |
| 2299 | CD 12 AAT>ACT (Asn>Thr) | Hb A2-Rotterdam | HBD:c.38A>C | δ | Causative | δ-chain variant | NG_000007.3 | 63220 |
| 1354 | CD 12 AAT>AAA [Asn>Lys] | Hb A2-NYU | HBD:c.39T>A | δ | Causative | δ-chain variant | NG_000007.3 | 63221 |
| 1355 | CD 13 GCC>GAC [Ala>Asp] (Hb A2-Corleone) | Hb A2-MUMC | HBD:c.41C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63223 |
| 2448 | CD 14 CTG>CCG [Leu>Pro] | Hb A2-Saint-Etienne | HBD:c.44T>C | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63226 |
| 3628 | CD 15 TGG>CGG [Trp>Arg] | Hb A2-Utah | HBD:c.46T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63228 |
| 3372 | CD 15 TGG>TTG [Trp>Leu] | Hb A2-Stockholm | HBD:c.47G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63229 |
| 1356 | CD 16 GGC>CGC | Hb A2' or Hb B2 | HBD:c.49G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63231 |
| 4097 | CD 17 AAA>CAA [Lys>Gln] | Hb A2-Laibin | HBD:c.52A>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63234 |
| 3242 | CD 17 AAA>ACA [Lys>Thr] | Hb A2-Qingyuan | HBD:c.53A>C | δ | Causative | δ-chain variant | NG_000007.3 | 63235 |
| 4039 | CD 18 GTG>GGG [Val>Gly] | Hb A2-Siping | HBD:c.56T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63238 |
| 2292 | CD 19 AAC>AAA [Asn>Lys] | Hb Famagusta | HBD:c.60C>A | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63242 |
| 1357 | CD 20 GTG>GAG | Hb A2-Roosevelt | HBD:c.62T>A | δ | Causative | δ-chain variant | NG_000007.3 | 63244 |
| 3241 | CD 21 GAT>GGT [Asp>Gly] | Hb A2-Dongguan | HBD:c.65A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63247 |
| 1396 | (δβδ hybrid) | Hb Parchman | NG_000007.3:g.[63249_70661del;63571_70985dup] | δ, β | Causative | δ-chain variant | NG_000007.3 | 63249 |
| 2447 | CD 22 GCA>ACA>AAA [Ala>Lys] | Hb A2-Marseille | HBD:c.[67G>A; 68C>A] | δ | Causative | δ-chain variant | NG_000007.3 | 63249 |
| 1401 | (Hb Anti-Lepore Miyada) | Hb Miyada | NG_000007.3:g.63249_70661dup | δ, β | Causative | N/A | NG_000007.3 | 63249 |
| 1358 | CD 22 GCA>GAA [Ala>Glu] | Hb A2-Flatbush | HBD:c.68C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63250 |
| 1359 | CD 24 GGT>GAT | Hb A2-Victoria | HBD:c.74G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63256 |
| 1360 | CD 25 GGT>GAT | Hb A2-Yokoshima | HBD:c.77G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63259 |
| 1361 | CD 26 GAG>GAC | Hb A2-Puglia | HBD:c.81G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63263 |
| 1332 | CD 27 GCC>TCC [Ala>Ser] | Hb A2-Yialousa | HBD:c.82G>T | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63264 |
| 3187 | rs35152987 | N/A | NG_000007.3:g.63264G>T | δ | Modifier | Anaemia | NG_000007.3 | 63264 |
| 3240 | CD 28 CTG>CCG [Leu>Pro] | Hb A2-Hunan | HBD:c.86T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63268 |
| 2437 | CD 29 GGC>GAC [Gly>Asp] | Hb A2-Hong Kong | HBD:c.89G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63271 |
| 3960 | CD 29 GGC>GGT [Gly>Gly] | N/A | HBD:c.90C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63272 |
| 1333 | CD 30 (AGG>ACG) | N/A | HBD:c.92G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63274 |
| 3883 | IVS I-1 G>C | N/A | HBD:c.92+1G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63275 |
| 1334 | IVS I-2 (T>C) | N/A | HBD:c.92+2T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63276 |
| 2090 | IVS I-5 G>T | N/A | HBD:c.92+5G>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63279 |
| 1397 | Hb Lepore-Hollandia | NG_000007.3:g.63290_70702del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63290 | |
| 2563 | IVS I-1 (27 bp insertion) | N/A | HBD:c.92+83_84ins27 | δ | Causative | δ-thalassaemia | NG_000007.3 | 63357 |
| 3233 | IVS I 3' AG>-C | N/A | HBD:c.93-2delA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63401 |
| 1335 | IVS I-128 G>C (IVS I 3' AG>AC) | N/A | HBD:c.93-1G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63402 |
| 1363 | CD 36 CCT>CAT | Hb A2-Metaponto | HBD:c.110C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63420 |
| 3387 | CD 36 CCT>CGT [Pro>Arg] | Hb A2-Sanremo | HBD:c.110C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63420 |
| 1336 | CD 37 (TGG>TAG) | N/A | HBD:c.113G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63423 |
| 4029 | CD 39 CAG>AAG [Gln>Lys] | Hb A2-Chengdu | HBD:c.118C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63428 |
| 2320 | CD 39 CAG>CAC [Gln>His] | Hb A2-Lyon | HBD:c.120G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63430 |
| 4037 | CD 40 AGG>AGT [Arg>Ser] | Hb A2-Wuhan | HBD:c.123G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63433 |
| 3239 | CD 42 TTT>CTT [Phe>Leu] | Hb A2-Huadu | HBD:c.127T>C | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63437 |
| 1364 | CD 43 GAG>AAG | Hb A2-Melbourne | HBD:c.130G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63440 |
| 1365 | CD 43 GAG>GGG | Hb A2-Agrinio | HBD:c.131A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63441 |
| 3238 | CD 44 TCC>TGC [Ser>Cys] | Hb A2-Conghua | HBD:c.134C>G | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63444 |
| 3806 | CD 44-48 (-CTTTGGGGATC) (p.Phe46Valfs*4) | N/A | HBD:c.135_145del | δ | Causative | δ-thalassaemia | NG_000007.3 | 63445 |
| 4026 | CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G | Hb A2-Malay | HBD:c.[139G>C;316-443A>G] | δ | Causative | δ-thalassaemia | NG_000007.3 | 63449, 64081 |
| 4069 | CD 46 GGG>AGG [Gly>Arg] | Hb A2-Yulin | HBD:c.139G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63449 |
| 2425 | CD 46 GGG>GAG [Gly>Glu] | Hb A2-Tunis | HBD:c.140G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63450 |
| 3317 | CD 47 GAT>AAT [Asp>Asn] | Hb A2-Lampang | HBD:c.142G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63452 |
| 1366 | CD 47 GAT>GTT | Hb A2-Parkville | HBD:c.143A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63453 |
| 2426 | CD 50 TCT>ACT [Ser>Thr] | Hb A2-Konz | HBD:c.151T>A | δ | Causative | δ-chain variant | NG_000007.3 | 63461 |
| 1367 | CD 51 CCT>CGT | Hb A2-Adria | HBD:c.155C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63465 |
| 2329 | CD 52 GAT>CAT [Asp>His] | Hb A2-Walsgrave | HBD:c.157G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63467 |
| 3316 | CD 53 GCT>CCT [Ala>Pro] | Hb A2-Edirne | HBD:c.160G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63470 |
| 3315 | CD 56 GGC>GAC [Gly>Asp] | Hb A2-Shah Alam | HBD:c.170G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63480 |
| 1368 | CD 57 AAC>AAA | Hb A2-Campania | HBD:c.174C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63484 |
| 2575 | CD 58 +C | N/A | HBD:c.176_177insC | δ | Causative | δ-thalassaemia | NG_000007.3 | 63486 |
| 3441 | CD 59 AAG>A-G (δ0 59 (-A)) | N/A | HBD:c.179delA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63489 |
| 1369 | CD 59 AAG>ATG [Lys>Met] | Hb A2-North Africa | HBD:c.179A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63489 |
| 1370 | CD 59 AAG>AAC | Hb A2-Pasteur-Tunis | HBD:c.180G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63490 |
| 3237 | CD 59/60 (+GG) | N/A | HBD:c.180_181dup | δ | Causative | δ-thalassaemia | NG_000007.3 | 63490 |
| 3870 | CD 62 GCT>CCT [Ala>Pro] | N/A | HBD:c.187G>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 63497 |
| 1371 | CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo) | Hb A2-Fogo | HBD:c.193G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63503 |
| 4036 | CD 65 AAG>ATG [Lys>Met] | Hb A2-Zhaoqing | HBD:c.197A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63507 |
| 3495 | CD 65 AAG>AAT [Lys>Asn] | Hb A2-Yunnan | HBD:c.198G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63508 |
| 4109 | N/A | Hb Lepore-Quanzhou | NG_000007.3:g.63511_70924del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63511 |
| 2573 | CD 67 GTG>ATG [Val>Met] | Hb A2-Deventer | HBD:c.202G>A | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63512 |
| 1372 | CD 69 GGT>CGT | Hb A2-Indonesia | HBD:c.208G>C | δ | Causative | δ-chain variant | NG_000007.3 | 63518 |
| 3406 | CD 69 GGT>GAT [Gly>Asp] | Hb A2-Gebenstorf | HBD:c.209G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63519 |
| 1373 | CD 70 GCC>GGC [Ala>Gly] (Cubstitution of Ala with Gly at helical position E14, which is in contact with heme.) | Hb A2-Ventimiglia | HBD:c.212C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63522 |
| 3335 | CD 73 GAT>GTT [Asp>Val] | Hb A2-Henan | HBD:c.221A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63531 |
| 2324 | CD 74 GGC>GAC [Gly>Asp] | Hb A2-Asti | HBD:c.224G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63534 |
| 1374 | CD 75 CTG>GTG | Hb A2-Grovetown | HBD:c.226C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63536 |
| 4092 | CD 76 GCT>GAT [Ala>Asp] | Hb A2-Moyen-Orient | HBD:c.230C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63540 |
| 3256 | CD 77 CAC>CGC [His>Arg] | Hb A2-Kiriwong | HBD:c.233A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63543 |
| 4091 | CD 79 GAC>AAC [Asp>Asn] | Hb A2-Guangxi | HBD:c.238G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63548 |
| 2477 | CD 79 GAC>GGC [Asp>Gly] | Hb A2-Turkish | HBD:c.239A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63549 |
| 4032 | CD 80 AAC>AAA [Asn>Lys] | Hb A2-Lishui | HBD:c.243C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63552 |
| 2309 | CD 81 CTC>TTC [Leu>Phe] (Hb A2-Saint-Denis) | Hb A2-St. George's | HBD:c.244C>T | δ | Causative | δ-chain variant | NG_000007.3 | 63554 |
| 2092 | CD 82 AAG>TAG | N/A | NG_000007.3:g.63557A>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63557 |
| 3992 | CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met] | Hb A2-Roi-Et | HBD:c.[249G>T;400G>A] | δ | Causative | δ-chain variant | NG_000007.3 | 63559, 64608 |
| 1375 | CD 83 GGC>GAC [Gly>Asp] | Hb A2-Nishishinbashi | HBD:c.251G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63561 |
| 1398 | Hb Lepore-Baltimore | NG_000007.3:g.63564_70978del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63564 | |
| 1376 | CD 85 TTT>TCT | Hb A2-Etolia | HBD:c.257T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63567 |
| 1377 | CD 87 CAG>AAG | Hb A2-Montechiaro | HBD:c.262C>A | δ | Causative | δ-chain variant | NG_000007.3 | 63572 |
| 3844 | CD 87 CAG>TAG [Gln>STOP] | N/A | HBD:c.262C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 63572 |
| 3236 | CD 87 CAG>C-G | N/A | HBD:c.263delA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63573 |
| 4016 | CD 87 CAG>CGG [Gln>Arg] | Hb A2-Cremona | HBD:c.263A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63573 |
| 1378 | CD 88 CTG>GTG | Hb A2-Lucania | HBD:c.265C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63575 |
| 3547 | CD 89 AGT>AAT [Ser>Asn] | Hb A2-Pistoia | HBD:c.269G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63579 |
| 2476 | CD 90 GAG>AAG [Glu>Lys] | Hb A2-Canebière | HBD:c.271G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63581 |
| 1379 | CD 90 GAG>GTG [Glu>Val] | Hb A2-Honai | HBD:c.272A>T | δ | Causative | δ-chain variant | NG_000007.3 | 63582 |
| 2354 | CD 90 GAG>GGG [Glu>Gly] | Hb A2-India | HBD:c.272A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63582 |
| 3383 | CD 91 CTG>CCG [Leu>Pro] | Hb A2-Courbevoie | HBD:c.275T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63585 |
| 1338 | CD 91 (+T) | N/A | HBD:c.275dupT | δ | Causative | δ-thalassaemia | NG_000007.3 | 63585 |
| 1380 | CD 93 TGT>GGT | Hb A2-Sant' Antioco | HBD:c.280T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63590 |
| 4013 | CD 93 TGT>TGG [Cys>Trp] | Hb A2-Pontedera | HBD:c.282T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63592 |
| 3598 | CD 93/94 (-TG) [Cys>STOP] | N/A | HBD:c.282_283delTG | δ | Causative | N/A | NG_000007.3 | 63592 |
| 4031 | CD 96 CTG>CGG [Leu>Arg] | Hb A2-Hubei | HBD:C.290T>G | δ | Causative | δ-chain variant | NG_000007.3 | 63600 |
| 3222 | CD 97 CAC>CGC [His>Arg] | Hb A2-Merchang | HBD:c.293A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63603 |
| 3787 | CD 97 CAC>CAT [His>His] | N/A | HBD:c.294C>T | δ | Neutral | N/A | NG_000007.3 | 63604 |
| 1339 | CD 98 (GTG>ATG) | Hb A2-Wrens | HBD:c.295G>A | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 63605 |
| 3975 | CD 98 (-GTG, +A) | N/A | HBD:c.295_297delGTGinsA | δ | Causative | δ-thalassaemia | NG_000007.3 | 63605 |
| 1382 | CD 99 GAT>AAT | Hb A2-Canada | HBD:c.298G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63608 |
| 4038 | CD 99 GAT>GGT [Asp>Gly] | Hb A2-Wanxian | HBD:c.299A>G | δ | Causative | δ-chain variant | NG_000007.3 | 63609 |
| 3003 | CD 100 CCT>TCT [Pro>Ser] | Hb A2-Saurashtra | HBD:c.301C>T | δ | Causative | δ-chain variant | NG_000007.3 | 63611 |
| 3002 | CD 104 AGG>AAG [Arg>Lys] | Hb Chori-Burnaby | HBD:c.314G>A | δ | Causative | δ-chain variant | NG_000007.3 | 63624 |
| 1383 | CD 104 AGG>AGT | Hb A2-Capri | HBD:c.315G>T | δ | Causative | δ-chain variant | NG_000007.3 | 63625 |
| 1340 | IVS II-1 G>A | N/A | HBD:c.315+1G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63626 |
| 1341 | IVS II-6 (T>A) | N/A | HBD:c.315+6T>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63631 |
| 1403 | (Hb Anti-Lepore P-India) | Hb P-India | NG_000007.3:g.63632_71046dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63632 |
| 1399 | Hb Lepore-Boston-Washington | NG_000007.3:g.63632_71046del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63632 | |
| 1507 | Sicilian (δβ)0 | N/A | NG_000007.3:g.64336_77738del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 64336 |
| 1512 | Laotian (δβ)0 (Thai (δβ)0-thal) | N/A | NG_000007.3:g.(64336_64524)_76866del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 64336 |
| 1513 | Thai/Vietnamese (δβ)0 (Thai (δβ)0 , Vietnamese (δβ)0 ) | N/A | NG_000007.3:g.64384_76993del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 64384 |
| 1342 | IVS II-894 C>T | N/A | HBD:c.316-5C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 64519 |
| 1343 | IVS II-897 A>C | N/A | HBD:c.316-2A>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 64522 |
| 2473 | IVS II-897 A>G | N/A | HBD:c.316-2A>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 64522 |
| 2201 | CD 107 G>A [Gly>Asp] | Hb A2-Tianhe | HBD:c.323G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64531 |
| 3235 | CD 108 AAT>GAT [Asn>Asp] | Hb A2-Meizhou | HBD:c.325A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64533 |
| 2521 | CD 110-111 +GT | N/A | HBD:c.333_334insGT | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 64541 |
| 3234 | CD 113 (+TG) | N/A | HBD:c.341_342dupTG | δ | Causative | δ-thalassaemia | NG_000007.3 | 64549 |
| 3230 | CD 115 GCC>GTC [Ala>Val] | N/A | HBD:c.347C>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 64555 |
| 3229 | CD 116 CGC>GGC [Arg>Gly] | N/A | HBD:c.349C>G | δ | Causative | δ-thalassaemia | NG_000007.3 | 64557 |
| 1384 | CD 116 CGC>TGC [Arg>Cys] | Hb A2-Troodos | HBD:c.349C>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64557 |
| 1402 | (Hb Anti-Lepore P-Congo) | Hb P-Congo | NG_000007.3:g.64557_71923dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 64557 |
| 1385 | CD 116 CGC>CAC [Arg>His] | Hb A2-Coburg | HBD:c.350G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64558 |
| 3314 | CD 116 CGC>CCC [Arg>Pro] | Hb A2-Bornova | HBD:c.350G>C | δ | Causative | δ-chain variant | NG_000007.3 | 64558 |
| 3318 | CD 116 CGC>CTC [Arg>Leu] (Hb A2-India) | Hb A2-Lepore | HBD:c.350G>T | δ | Causative | δ-chain variant | NG_000007.3 | 64558 |
| 1386 | CD 117 AAC>GAC | Hb A2-Liangcheng | HBD:c.352A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64560 |
| 2574 | CD 117 AAC>ACC [Asn>Thr] | Hb A2-Amsterdam | HBD:c.353A>C | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 64561 |
| 2363 | CD 119 GGC>GAC [Gly>Asp] | Hb A2-Lewisburg | HBD:c.359G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64567 |
| 3843 | CD 120 AAG>ACG [Lys>Thr] | Hb A2-Liangqing | HBD:c.362A>C | δ | Causative | δ-chain variant | NG_000007.3 | 64570 |
| 3058 | CD 121 GAA>AAA [Glu>Lys] | Hb A2-Fengshun | HBD:c.364G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64572 |
| 1387 | CD 121 GAA>GTA | Hb A2-Manzanares | HBD:c.365A>T | δ | Causative | δ-chain variant | NG_000007.3 | 64573 |
| 4012 | CD 123 ACC>GCC [Thr>Ala] | Hb A2-Kuching | HBD:c.370A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64578 |
| 1388 | CD 125 CAA>GAA | Hb A2-Zagreb | HBD:c.376C>G | δ | Causative | δ-chain variant | NG_000007.3 | 64584 |
| 4034 | CD 125 CAA>CGA [Gln>Arg] | Hb A2-Tongchuan | HBD:c.377A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64585 |
| 3867 | >6.5 Kb deletion | N/A | NG_000007.3:g.(63032_64585)_(71150_72080)del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 64585 |
| 3546 | CD 130 TAT>-AT | Hb A2-Gaslini 1 | HBD:c.391delT | δ | Causative | δ-chain variant | NG_000007.3 | 64599 |
| 3490 | CD 131 CAG>GAG [Gln>Glu] | Hb A2-Puer | HBD:c.394C>G | δ | Causative | δ-chain variant | NG_000007.3 | 64602 |
| 1389 | CD 133 GTG>GCG | Hb A2-Ninive | HBD:c.401T>C | δ | Causative | δ-chain variant | NG_000007.3 | 64609 |
| 3842 | CD134 GTG>GAG [Val>Glu] | N/A | HBD:c.404T>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 64612 |
| 1390 | CD 136 GGT>GAT [Gly>Asp] | Hb A2-Babinga | HBD:c.410G>A | δ | Causative | δ-chain variant | NG_000007.3 | 64618 |
| 2482 | CD 137 -GTG [-Val] (Hb Anti-Lepore Lincoln Park) | Hb Lincoln Park | HBD:c.412_414delGTG | δ | Causative | δ-chain variant, Haemolytic anaemia | NG_000007.3 | 64620 |
| 1391 | CD 140 GCC>GTC | Hb A2-Bagheria | HBD:c.422C>T | δ | Causative | δ-chain variant | NG_000007.3 | 64630 |
| 1392 | CD 141 CTG>CCG | Hb A2-Pelendri | HBD:c.425T>C | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 64633 |
| 2524 | CD 142 GCT>CCT [Ala>Pro] | N/A | HBD:c.427C>A | δ | Causative | δ-chain variant | NG_000007.3 | 64635 |
| 1393 | CD 142 GCT>GAT [Ala>Asp] | Hb A2-Fitzroy | HBD:c.428C>A | δ | Causative | δ-chain variant | NG_000007.3 | 64636 |
| 2560 | CD 142 GCT>GTT [Ala>Val] | Hb A2-Episkopi | HBD:c.428C>T | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 64636 |
| 2392 | CD 143 CAC>TAC [His>Tyr] | Hb Noah Mehmet Oeztuerk | HBD:c.430C>T | δ | Causative | δ-chain variant | NG_000007.3 | 64638 |
| 2421 | CD 143 CAC>GAC [His>Asp] | Hb A2-Leuven | HBD:c.430C>G | δ | Causative | δ-chain variant | NG_000007.3 | 64638 |
| 2989 | CD 143 CAC>CGC [His>Arg] (Hb A2-Abruzzo) | Hb A2-Leuven II | HBD:c.431A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64639 |
| 3376 | CD 144 AAG>GAG [Lys>Glu] | Hb A2-Angola | HBD:c.433A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64641 |
| 2349 | CD 144 AAG>ACG [Lys>Thr] | Hb A2-San Floro | HBD:c.434A>C | δ | Causative | δ-chain variant | NG_000007.3 | 64642 |
| 1394 | CD 146 CAT>CGT | Hb A2-Monreale | HBD:c.440A>G | δ | Causative | δ-chain variant | NG_000007.3 | 64648 |
| 3269 | CD 147 TGA>CGA [Stop>Arg] | N/A | HBD:c.442T>C | δ | Causative | δ-thalassaemia | NG_000007.3 | 64650 |
| 2520 | CD 147 TGA>TTA | N/A | HBD:c.443G>T | δ | Causative | δ-chain variant, δ-thalassaemia | NG_000007.3 | 64651 |
| 3394 | 223 kb deletion | N/A | NC_000011.10:g.5010012_5232933del | δ, β | Causative | β-thalassaemia | NG_000007.3 | 64683 |
| 1346 | Poly A +69 (G>A) | N/A | HBD:c.*199G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 64851 |
| 4033 | Poly A +69 (G>T) | N/A | HBD:c.*199G>T | δ | Causative | δ-thalassaemia | NG_000007.3 | 64851 |
| 3958 | 8.2 kb deletion | N/A | NG_000007.3:g.65147_73407del | β | Causative | β-thalassaemia | NG_000007.3 | 65147 |
| 298 | Filipino (~45 kb deletion) | N/A | NC_000011.10:g.5112882 _5231358del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 66258 |
| 292 | Turk (~7.6 kb deletion) | N/A | NG_000007.3:g.[52524_60162del;66278_73952del] | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 66278 |
| 2872 | rs6578588 | N/A | NG_000007.3:g.66595A>G | HBB-HBD | Modifier | Hb F levels, Severity | NG_000007.3 | 66595 |
| 2283 | South-Italy | N/A | NC_000011.10:g.5164564_5230714del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 66902 |
| 3188 | rs7944544 | N/A | NG_000007.3:g.66997C>A | HBB-HBD | Modifier | Anaemia | NG_000007.3 | 66997 |
| 2157 | Indian (4056 bp deletion) | N/A | NG_000007.3:g.67357_71413del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 67357 |
| 3997 | 7.2 kb deletion | N/A | NC_000011.10:g.5222800_5230034del | β | Causative | β-thalassaemia | NG_000007.3 | 67582 |
| 296 | Dutch (12620 bp deletion) | N/A | NG_000007.3:g.68071_80682del12612 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 68071 |
| 2124 | Caucasian HPFH (27825 bp deletion) | N/A | NC_000011.10:g.5201455_5229279delins5223936_5223960 | β | Causative | β-thalassaemia, Hb F levels | NG_000007.3 | 68337 |
| 1505 | South East Asian (SEA) deletion (Vietnamese, SE Asian, HPFH-7, SEA-HPFH, 27 kb deletion) | N/A | NC_000011.10:g.5201647_5229059del | β | Causative | β-thalassaemia, Hb F levels | NG_000007.3 | 68557 |
| 3189 | rs7936823 | N/A | NG_000007.3:g.68678C>T | β | Modifier | Hb F levels, Anaemia, Severity | NG_000007.3 | 68678 |
| 2869 | rs1003586 | N/A | NG_000007.3:g.69476G>A | β | Modifier | Hb F levels | NG_000007.3 | 69476 |
| 3823 | 60 kb deletion (Prachinburi β0-thalassemia deletion) | N/A | NC_000011.10:g.5167971_5228123delinsA | β | Causative | β-thalassaemia | NG_000007.3 | 69493 |
| 289 | Croatian (1605 bp deletion) | N/A | NG_000007.3:g.69561_71164del1604 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 69561 |
| 290 | Thai (3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del) | N/A | NG_000007.3:g.69826_73313del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 69826 |
| 2150 | 1357 bp deletion (Taiwanese deletion) | N/A | NG_000007.3:g.69997_71353del1357 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 69997 |
| 288 | Black, British (1393 bp deletion) | N/A | NG_000007.3:g.70060_71452del1393 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70060 |
| 2125 | Afghan (909 bp deletion) | N/A | NG_000007:g.70067_70976del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70067 |
| 284 | 468 bp deletion | N/A | NG_000007.3:g.70070_70537del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70070 |
| 2036 | -487 T>C | N/A | NG_000007.3:g.70076C>T | β | Neutral | N/A | NG_000007.3 | 70076 |
| 285 | Black (532 bp deletion) | N/A | HBB:c.-504_28del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70091 |
| 3277 | 538 bp deletion | N/A | HBB:c.-464_74del | NG_000007.3:g.70131_70668del | β | Causative | β-thalassaemia | NG_000007.3 | 70131 |
| 3278 | 1517 bp deletion | N/A | HBB:c.-390_316-169delinsA | β | Causative | β-thalassaemia | NG_000007.3 | 70205 |
| 2037 | -300 C>T | N/A | NG_000007.3:g.70205C>T | β | Neutral | N/A | NG_000007.3 | 70205 |
| 4066 | 10.8 kb deletion | N/A | NC_000011.10:g.5216601_5227407del | β | Causative | β-thalassaemia | NG_000007.3 | 70209 |
| 3081 | -223 T>C | N/A | HBB:c.-273T>C | β | Causative | β-thalassaemia | NG_000007.3 | 70322 |
| 3562 | -198 A>G | N/A | HBB:c.-248A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70347 |
| 1 | -190 (G>A) | N/A | HBB:c.-240G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70355 |
| 2122 | 125 bp deletion | N/A | NG_000007.3:g.70360_70485del125 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70360 |
| 2153 | Kabylia deletion/insertion | N/A | NG_000007.3:g.70417_72458delinsATAAG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70417 |
| 283 | 290 bp deletion | N/A | HBB:c.-176_92+25del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70419 |
| 2546 | -126 C>T | N/A | HBB:c.-176C>T | β | Neutral | N/A | NG_000007.3 | 70419 |
| 2 | -102 (C>A) | N/A | HBB:c.-152C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70443 |
| 3 | -101 (C>T) | N/A | HBB:c.-151C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70444 |
| 4 | -101 (C>G) | N/A | HBB:c.-151C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70444 |
| 3752 | -99 to -85 (-15bp) | N/A | HBB:c.-149_-135delGTGGAGCCACACCCT | β | Causative | β-thalassaemia | NG_000007.3 | 70446 |
| 3059 | -98 T>A | N/A | HBB:c.-148T>A | β | Causative | β-thalassaemia | NG_000007.3 | 70447 |
| 5 | -93 C>G | N/A | HBB:c.-143C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70452 |
| 6 | -92 (C>T) | N/A | HBB:c.-142C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70453 |
| 7 | -90 (C>T) | N/A | HBB:c.-140C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70455 |
| 3224 | -90 (C>G) | N/A | HBB:c.-140C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70455 |
| 3990 | -89 to -88 (-AC) | N/A | HBB:c.-139_-138delAC | β | Causative | β-thalassaemia | NG_000007.3 | 70456 |
| 8 | -88 (C>T) | N/A | HBB:c.-138C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70457 |
| 9 | -88 (C>A) | N/A | HBB:c.-138C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70457 |
| 2178 | -88 C>G | N/A | HBB:c.-138C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70457 |
| 10 | -87 C>G | N/A | HBB:c.-137C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70458 |
| 11 | -87 (C>T) | N/A | HBB:c.-137C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70458 |
| 12 | -87 (C>A) | N/A | HBB:c.-137C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70458 |
| 13 | -86 C>G | N/A | HBB:c.-136C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70459 |
| 14 | -86 (C>A) | N/A | HBB:c.-136C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70459 |
| 4028 | -86 C>T | N/A | HBB:c.-136C>T | β | Causative | β-thalassaemia | NG_000007.3 | 70459 |
| 3077 | -83 G>A | N/A | HBB:c.-133G>A | β | Causative | β-thalassaemia | NG_000007.3 | 70462 |
| 3069 | -77 G>C | N/A | HBB:c.-127G>C | β | Causative | β-thalassaemia | NG_000007.3 | 70468 |
| 3386 | -76 C>A | N/A | HBB:c.-126C>A | β | Causative | β-thalassaemia | NG_000007.3 | 70469 |
| 3671 | -76 C>T | N/A | HBB:c.-126C>T | β | Causative | β-thalassaemia | NG_000007.3 | 70469 |
| 15 | -73 (A>T) | N/A | HBB:c.-123A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70472 |
| 3672 | -73 A>C | N/A | HBB:c.-123A>C | β | Causative | β-thalassaemia | NG_000007.3 | 70472 |
| 3673 | -73 A>G | N/A | HBB:c.-123A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70472 |
| 2997 | -72 T>A | N/A | HBB:c.-122T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70473 |
| 2171 | -71 C>T | N/A | HBB:c.-121C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70474 |
| 3674 | -63 A>G | N/A | HBB:c.-113A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70482 |
| 16 | -56 G>C | N/A | HBB:c.-106G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70489 |
| 2039 | -54 G>A | N/A | NG_000007.3:g.70491G>A | β | Neutral | N/A | NG_000007.3 | 70491 |
| 17 | -50 G>A | N/A | HBB:c.-100G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70495 |
| 3060 | -42 C>G | N/A | HBB:c.-92C>G | β | Causative | β-thalassaemia | NG_000007.3 | 70503 |
| 3925 | -42 (-C) | N/A | HBB:c.-92delC | β | Causative | β-thalassaemia | NG_000007.3 | 70503 |
| 2172 | -41 A>T | N/A | HBB:c.-91A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70504 |
| 18 | -32 (C>A) | N/A | HBB:c.-82C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70513 |
| 19 | -32 (C>T) | N/A | HBB:c.-82C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70513 |
| 20 | -31 (A>G) | N/A | HBB:c.-81A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70514 |
| 21 | -31 (A>C) | N/A | HBB:c.-81A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70514 |
| 22 | -30 (T>A) | N/A | HBB:c.-80T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70515 |
| 23 | -30 (T>C) | N/A | HBB:c.-80T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70515 |
| 2179 | -30 T>G | N/A | HBB:c.-80T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70515 |
| 3062 | -30 (-T) | N/A | HBB:c.-80delT | β | Causative | β-thalassaemia | NG_000007.3 | 70515 |
| 24 | -29 to -26 (-AA) | N/A | HBB:c.-79_78delAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70516 |
| 25 | -29 (A>G) | N/A | HBB:c.-79A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70516 |
| 26 | -29 (A>C) | N/A | HBB:c.-79A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70516 |
| 28 | -28 (A>C) | N/A | HBB:c.-78A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70517 |
| 29 | -28 (A>G) | N/A | HBB:c.-78A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70517 |
| 30 | -27 (A>T) | N/A | HBB:c.-77A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70518 |
| 31 | -27 (-AA) | N/A | HBB:c.-77_-76delAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70518 |
| 2175 | -26 A>C | N/A | HBB:c.-76A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70519 |
| 32 | -25 (G>C) | N/A | HBB:c.-75G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70520 |
| 2565 | -25 G>T | N/A | HBB:c.-75G>T | β | Causative | β-thalassaemia | NG_000007.3 | 70520 |
| 282 | 105 bp deletion | N/A | HBB:c.-74_31del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70521 |
| 3926 | -17 (A>G) | N/A | HBB:c.-67A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70528 |
| 34 | CAP +1 (A>C) | N/A | HBB:c.-50A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70545 |
| 3464 | CAP +3 A>T | N/A | HBB:c.-48A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70547 |
| 35 | CAP +8 (C>T) | N/A | HBB:c.-43C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70552 |
| 36 | CAP +10 (-T) (5'UTR +10 (-T)) | N/A | HBB:c.-41delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70554 |
| 2494 | CAP +16 A>G | N/A | HBB:c.-35A>G | β | Neutral | N/A | NG_000007.3 | 70560 |
| 37 | CAP +20 C>T; IVS II-745 C>G | N/A | HBB:c.[-31C>T;316-106C>G] | β | Neutral | N/A | NG_000007.3 | 70564, 71784 |
| 3627 | CAP +20 (-C) | N/A | HBB:c.-31delC | β | Causative | β-thalassaemia | NG_000007.3 | 70564 |
| 38 | CAP +22 (G>A) | N/A | HBB:c.-29G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70566 |
| 3345 | CAP +22 (G>T) | N/A | HBB:c.-29G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70566 |
| 3676 | CAP +27 (C>G) | N/A | HBB:c.-24C>G | β | Causative | β-thalassaemia | NG_000007.3 | 70571 |
| 33 | -22 to +23 (+45 bp duplication) | N/A | NG_000007.3:g.70573_70617dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70573 |
| 2536 | CAP +30 T>A | N/A | HBB:c.-21T>A | β | Causative | β-thalassaemia | NG_000007.3 | 70574 |
| 4089 | CAP +32 (G>C) | N/A | HBB:c.-19G>C | β | Causative | β-thalassaemia | NG_000007.3 | 70576 |
| 39 | CAP +33 (C>G) | N/A | HBB:c.-18C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70577 |
| 2176 | CAP +39 C>T | N/A | HBB:c.-12C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70583 |
| 40 | CAP +41 to +44 (-AACA) (CAP +40 to +43 (-AAAC)) | N/A | HBB:c.-10_-7delAACA | β | Causative | β-thalassaemia | NG_000007.3 | 70585 |
| 41 | CAP +45 (G>C) | Hb Odisha | HBB:c.-6G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70589 |
| 42 | Init CD ATG>GTG | N/A | HBB:c.1A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70595 |
| 43 | Init CD ATG>CTG | N/A | HBB:c.1A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70595 |
| 44 | Init CD ATG>ACG | N/A | HBB:c.2T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70596 |
| 45 | Init CD ATG>AGG | N/A | HBB:c.2T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70596 |
| 46 | Init CD ATG>AAG | N/A | HBB:c.2T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70596 |
| 47 | Init CD ATG>ATC | N/A | HBB:c.3G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70597 |
| 48 | Init CD ATG>ATA | N/A | HBB:c.3G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70597 |
| 49 | Init CD ATG>ATT | N/A | HBB:c.3G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70597 |
| 50 | CD 1 (-G) | N/A | HBB:c.4delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70598 |
| 790 | CD 1 GTG>ATG | Hb South Florida | HBB:c.4G>A | β | Causative | β-chain variant | NG_000007.3 | 70598 |
| 791 | CD 1 GTG>TTG | Hb Niigata | HBB:c.4G>T | β | Causative | β-chain variant | NG_000007.3 | 70598 |
| 792 | CD 1 GTG>GGG | Hb Watford | HBB:c.5T>G | β | Causative | β-chain variant | NG_000007.3 | 70599 |
| 793 | CD 1 GTG>GCG | Hb Raleigh | HBB:c.5T>C | β | Causative | β-chain variant | NG_000007.3 | 70599 |
| 794 | CD 1 GTG>GAG | Hb Doha | HBB:c.5T>A | β | Causative | β-chain variant | NG_000007.3 | 70599 |
| 795 | CD 2 CAT>TAT | Hb Fukuoka | HBB:c.7C>T | β | Causative | β-chain variant | NG_000007.3 | 70601 |
| 51 | CD 2-4 (-9 bp, +31 bp) | N/A | HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70601 |
| 3437 | CD 2 CAT>-AT | Hb Bundelkhand | HBB:c.7delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70601 |
| 2542 | CD 2 CAT>AAT [His>Asn] | Hb Franklin Park | HBB:c.7C>A | β | Causative | β-chain variant | NG_000007.3 | 70601 |
| 3014 | CD 2 CAT>C-T | N/A | HBB:c.8delA | β | Causative | β-thalassaemia | NG_000007.3 | 70602 |
| 796 | CD 2 CAT>CCT [His>Pro] (Hb Long Island-Marseille, Hb Agrigente) | Hb Marseille | HBB:c.8A>C | β | Causative | β-chain variant | NG_000007.3 | 70602 |
| 797 | CD 2 CAT>CTT | Hb Graz | HBB:c.8A>T | β | Causative | β-chain variant | NG_000007.3 | 70602 |
| 799 | CD 2 CAT>CGT | Hb Deer Lodge | HBB:c.8A>G | β | Causative | β-chain variant | NG_000007.3 | 70602 |
| 53 | CD 2/3 (+T); CD 5 (-C) | Hb Antalya | HBB:c.[9dupT; 17delC] | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70603, 70611 |
| 800 | CD 2 CAT>CAA or CAG | Hb Okayama | HBB:c.9T>A | HBB:c.9T>G | β | Causative | β-chain variant | NG_000007.3 | 70603 |
| 3561 | CD 2 CAT/CA- | N/A | HBB:c.9delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70603 |
| 2041 | CD 2 CAC>CAT [His>His] | N/A | NG_000007.3:g.70603T>C | β | Neutral | N/A | NG_000007.3 | 70603 |
| 3007 | rs713040 (NM_000518.5(HBB):c.9T>C) | N/A | NG_059281.1:g.5059T>C | β | Neutral | N/A | NG_000007.3 | 70603 |
| 2327 | CD 3 CTG>ATG [Leu>Met] | Hb Niguarda | HBB:c.10C>A | β | Causative | β-chain variant | NG_000007.3 | 70604 |
| 3794 | CD 3 (CTG>AAG) [Leu>Lys] | Hb Jiangnan | HBB:c.10_11delinsAA | β | Causative | β-chain variant | NG_000007.3 | 70604 |
| 3850 | CD 3 CTG>TTG [Leu>Leu] | N/A | HBB:c.10C>T | β | Neutral | N/A | NG_000007.3 | 70604 |
| 802 | CD 3 CTG>GTG [Leu>Val] | Hb Kamakura | HBB:c.10C>G | β | Causative | β-chain variant | NG_000007.3 | 70604 |
| 803 | CD 3 CTG>CAG [Leu>Gln] | Hb Santo Domingo | HBB:c.11T>A | β | Causative | β-chain variant | NG_000007.3 | 70605 |
| 2359 | CD 3 CTG>CCG [Leu>Pro] | Hb Jabalpur | HBB:c.11T>C | β | Causative | β-chain variant | NG_000007.3 | 70605 |
| 3878 | CD 3 CTG>CGG [Leu>Arg] | Hb Sedgwick | HBB:c.11T>G | β | Causative | β-chain variant | NG_000007.3 | 70605 |
| 52 | CD 3 (+T) | N/A | HBB:c.11dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70605 |
| 2326 | CD 4 ACT>CCT [Thr>Pro] | Hb Benin City | HBB:c.13A>C | β | Causative | β-chain variant | NG_000007.3 | 70607 |
| 3949 | CD 4 ACT>ATT [Thr>Ile] | Hb Fox Point | HBB:c.14C>T | β | Causative | β-chain variant | NG_000007.3 | 70608 |
| 3817 | CD 4 (-T) | N/A | HBB:c.14delC | β | Causative | β-thalassaemia | NG_000007.3 | 70608 |
| 804 | CD 4 ACT>AAT | Hb Wurzburg | HBB:c.14C>A | β | Causative | β-chain variant | NG_000007.3 | 70608 |
| 55 | CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG) | N/A | HBB:c.[15T>A;16C>T;19G>T] | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70609, 70610, 70613 |
| 805 | CD 5 CCT>TCT | Hb Tyne | HBB:c.16C>T | β | Causative | β-chain variant | NG_000007.3 | 70610 |
| 806 | CD 5 CCT>GCT [Pro>Ala] (Hb Hinchingbrooke) | Hb Gorwihl | HBB:c.16C>G | β | Causative | β-chain variant | NG_000007.3 | 70610 |
| 807 | CD 5 CCT>CGT | Hb Warwickshire | HBB:c.17C>G | β | Causative | β-chain variant | NG_000007.3 | 70611 |
| 54 | CD 5 -CT | N/A | HBB:c.17_18delCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70611 |
| 2321 | CD 5 CCT>CTT [Pro>Leu] | Hb Aix-les-Bains | HBB:c.17C>T | β | Causative | β-chain variant | NG_000007.3 | 70611 |
| 2180 | CD 5/6 -TG | N/A | HBB:c.18_19delTG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70612 |
| 56 | CD 6 (GAG>TAG) | N/A | HBB:c.19G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70613 |
| 2184 | CD 6-14 (-26 bp) (26 bp deletion) | N/A | HBB:c.20_45del26bp | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70613 |
| 808 | CD 6 GAG>AAG; CD 95 AAG>GAG | Hb Arlington Park | HBB:c.[19G>A;286A>G] | β | Causative | β-chain variant | NG_000007.3 | 70613 |
| 809 | CD 6 GAG>AAG [Glu>Lys] and CD 98 GTG>ATG [Val>Met] | Hb Kingsbury | HBB:c.[19G>A ;295G>A] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70613 |
| 810 | CD 6 GAG>AAG [Glu>Lys] | HbC | HBB:c.19G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70613 |
| 811 | CD 6 GAG>AAG [Glu>Lys]; CD 37 TGG>AGG or CGG [Trp>Arg] | Hb C-Rothschild | HBB:c.[19G>A;112T>A] | HBB:c.[19G>A;112T>C] | β | Causative | β-chain variant | NG_000007.3 | 70613, 70836 |
| 812 | CD 6 GAG>AAG; CD 83 GGC>GAC | Hb C-New Cross | HBB:c.[19G>A;251G>A] | β | Causative | β-chain variant | NG_000007.3 | 70613 |
| 813 | CD 6 GAG>CAG | Hb Machida | HBB:c.19G>C | β | Causative | β-chain variant | NG_000007.3 | 70613 |
| 814 | CD 6 GAG>GTG | Hb S-South End | HBB:c.[20A>T;399A>C] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 815 | CD 6 GAG>GTG; CD 23 GTT>ATT | Hb S-Antilles | HBB:c.[20A>T;70G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 816 | CD 6 GAG>GTG; CD 58 CCT>CGT | Hb C-Ziguinchor | HBB:c.[20A>T;176C>G] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 817 | CD 6 GAG>GTG; CD 73 GAT>AAT | Hb C-Harlem | HBB:c.[20A>T;220G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 818 | CD 6 GAG>GTG; CD 82AAG>AAT or AAC | Hb S-Providence | HBB:c.[20A>T;249G>C] | HBB:c.[20A>T;249G>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 819 | CD 6 GAG>GTG; CD 142 GCC>GTC | Hb S-Travis | HBB:c.[20A>T;428C>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 820 | CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly] | Hb C-Ndjamena; Hb S-Northwick | HBB:c.[20A>T;112T>G] | β | Causative | β-chain variant | NG_000007.3 | 70614, 70836 |
| 821 | CD 6 GAG>GTG; CD 121 GAA>AAA | Hb S-Oman | HBB:c.[20A>T;364G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 822 | CD 6 GAG>GTG [Glu>Val], CD 8 AAG>ACG [Lys>Thr] | Hb S-Clichy | HBB:c.[20A>T;26A>C] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 823 | CD 6 GAG>GTG; CD 90 GAG>AAG | Hb S-Cameroon | HBB:c.[20A>T;271G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 824 | CD 6 GAG>GTG [Glu>Val] (Sickle-cell) | HbS | HBB:c.20A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70614 |
| 825 | CD 6 GAG>GTG; CD 68 CTC>TTC | Hb Jamaica Plain | HBB:c.[20A>T;205C>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 826 | CD 6 GAG>GCG | Hb G-Makassar | HBB:c.20A>C | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 827 | CD 6 GAG>GGG [Glu>Gly] | Hb Lavagna | HBB:c.20A>G | β | Causative | β-chain variant | NG_000007.3 | 70614 |
| 57 | CD 6 -A | N/A | HBB:c.20delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70614 |
| 58 | CD 6 (-G) | N/A | HBB:c.20delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70614 |
| 2440 | CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu] | Hb S-Sao Paulo | HBB:c.[20A>T ;196A>G] | β | Causative | β-chain variant | NG_000007.3 | 70614, 70920 |
| 3324 | CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser] | Hb S-Wake | HBB:c.[20A>T;419A>G] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70614, 71993 |
| 59 | CD 6-10 (-13 bp) | N/A | HBB:c.21_33delGGAGAAGTCTGCC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70615 |
| 60 | CD 7 GAG>TAG | N/A | HBB:c.22G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70616 |
| 2400 | CD 7 GAG>CAG [Glu>Gln] (Hb Bellevue III) | Hb Vellore | HBB:c.22G>C | β | Causative | β-chain variant | NG_000007.3 | 70616 |
| 828 | CD 7 (-GAG) [-Glu] (Hb Xinyi) | Hb Leiden | HBB:c.22_24delGAG | β | Causative | β-chain variant | NG_000007.3 | 70616 |
| 829 | CD 7 GAG>AAG | Hb G-Siriraj | HBB:c.22G>A | β | Causative | β-chain variant | NG_000007.3 | 70616 |
| 830 | CD 7 GAG>GGG | Hb G-San José | HBB:c.23A>G | β | Causative | β-chain variant | NG_000007.3 | 70617 |
| 2963 | CD 7 GAG>GTG [Glu>Val] | Hb Haaglanden | HBB:c.23A>T | β | Causative | β-chain variant | NG_000007.3 | 70617 |
| 3288 | CD7 GAG>G-G | N/A | HBB:c.23delA | β | Causative | β-thalassaemia | NG_000007.3 | 70617 |
| 2958 | CD 7/8 (+G) | N/A | HBB:c.24dupG | β | Causative | β-thalassaemia | NG_000007.3 | 70618 |
| 2382 | CD 7 GAG>GAT [Glu>Asp] | Hb Stockholm | HBB:c.24G>T | β | Causative | β-chain variant | NG_000007.3 | 70618 |
| 61 | CD 8 (-AA) | N/A | HBB:c.25_26delAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70619 |
| 831 | CD 8 AAG>CAG [Lys>Gln] | Hb J-Luhe | HBB:c.25A>C | β | Causative | β-chain variant | NG_000007.3 | 70619 |
| 832 | CD 8 AAG>GAG | Hb N-Timone | HBB:c.25A>G | β | Causative | β-chain variant | NG_000007.3 | 70619 |
| 833 | CD 8 AAG>ACG | Hb Rio Grande | HBB:c.26A>C | β | Causative | β-chain variant | NG_000007.3 | 70620 |
| 834 | CD 8 AAG>ATG | Hb Nakano | HBB:c.26A>T | β | Causative | β-chain variant | NG_000007.3 | 70620 |
| 835 | CD 8 AAG>AGG [Lys>Arg] | Hb Lucknow | HBB:c.26A>G | β | Causative | β-chain variant | NG_000007.3 | 70620 |
| 2185 | CD 8/9 +AGAA | N/A | HBB:c.27_28insAGAA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70620 |
| 62 | CD 8/9 (+G) | N/A | HBB:c.27dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70621 |
| 3513 | CD 8 AAG>AA- | N/A | HBB:c.27delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70621 |
| 836 | CD 8 AAG>AAC | Hb Limassol | HBB:c.27G>C | β | Causative | β-chain variant | NG_000007.3 | 70621 |
| 63 | CD 9 (+TA) | N/A | HBB:c.28_29insTA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70622 |
| 837 | CD 9 TCT>TAT | Hb Brem-sur-Mer | HBB:c.29C>A | β | Causative | β-chain variant | NG_000007.3 | 70623 |
| 838 | CD 9 TCT>TGT | Hb Pôrto Alegre | HBB:c.29C>G | β | Causative | β-chain variant | NG_000007.3 | 70623 |
| 839 | CD 9 TCT>TAT; CD 121 GAA>CAA | Hb D-Agri | HBB:c.[29C>A;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 70623 |
| 3401 | CD 9 TCT>TTT [Ser>Phe] | Hb Hengyang | HBB:c.29C>T | β | Causative | β-chain variant | NG_000007.3 | 70623 |
| 3399 | CD 9 TCT>TC- | Hb Antep | HBB:c.30delT | β | Causative | β-chain variant | NG_000007.3 | 70624 |
| 64 | CD 9/10 (+T) | Hb Gaziantep | HBB:c.30dupT | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70624 |
| 4108 | CD 10 GCC>GTC [Ala>Val] | N/A | HBB:c.31_32insT | β | Causative | β-thalassaemia | NG_000007.3 | 70625 |
| 840 | CD 10 GCC>ACC [Ala>Thr] | Hb Belleville | HBB:c.31G>A | β | Causative | β-chain variant | NG_000007.3 | 70625 |
| 841 | CD 10 GCC>GTC | Hb Iraq-Halabja | HBB:c.32C>T | β | Causative | β-chain variant | NG_000007.3 | 70626 |
| 842 | CD 10 GCC>GAC | Hb Ankara | HBB:c.32C>A | β | Causative | β-chain variant | NG_000007.3 | 70626 |
| 65 | CD 10 GCC>GCA [Ala>Ala] | N/A | HBB:c.33C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70627 |
| 66 | CD 10 (-C) | N/A | HBB:c.33delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70627 |
| 843 | CD 11 GTT>ATT | Hb Hamilton | HBB:c.34G>A | β | Causative | β-chain variant | NG_000007.3 | 70628 |
| 844 | CD 11 GTT>TTT | Hb Washtenaw | HBB:c.34G>T | β | Causative | β-chain variant | NG_000007.3 | 70628 |
| 845 | CD 11 GTT>ATT; CD 121 GAA>AAA | Hb O-Tibesti | HBB:c.[34G>A;364G>A] | β | Causative | β-chain variant | NG_000007.3 | 70628 |
| 3297 | CD 11-13 (-9bp): (-GTTACTGCC) | Hb JC-Paz | HBB:c.34_42delGTTACTGCC | β | Causative | β-chain variant | NG_000007.3 | 70628 |
| 847 | CD 11 GTT>GAT | Hb Windsor | HBB:c.35T>A | β | Causative | β-chain variant | NG_000007.3 | 70629 |
| 67 | CD 11 (-T) | N/A | HBB:c.36delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70630 |
| 2492 | CD 12 ACT>CCT [Thr>Pro] (Hb Feilding) | Hb Ashburton | HBB:c.37A>C | β | Causative | β-chain variant | NG_000007.3 | 70631 |
| 2543 | CD 12 ACT>ATT [Thr>Ile] | Hb William-Harvey | HBB:c.38C>T | β | Causative | β-chain variant | NG_000007.3 | 70632 |
| 3359 | CD 13 GCC>ACC [Ala>Thr] (Hb Chuxiong) | Hb Tower Hamlets | HBB:c.40G>A | β | Causative | β-chain variant | NG_000007.3 | 70634 |
| 3248 | CD 13 GCC>GTC [Ala>Val] | Hb Yulin | HBB:c.41C>T | β | Causative | β-chain variant | NG_000007.3 | 70635 |
| 848 | CD 13 GCC>GAC | Hb J-Lens | HBB:c.41C>A | β | Causative | β-chain variant | NG_000007.3 | 70635 |
| 3721 | CD 14 CTG>-TG | N/A | HBB:c.43delC | β | Causative | β-thalassaemia | NG_000007.3 | 70637 |
| 68 | CD 14 (+T) | N/A | HBB:c.44dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70638 |
| 2553 | CD 14 CTG>C-G | N/A | HBB:c.44delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70638 |
| 849 | CD 14 CTG>CCG | Hb Saki | HBB:c.44T>C | β | Causative | β-chain variant | NG_000007.3 | 70638 |
| 850 | CD 14 CTG>CGG | Hb Sogn | HBB:c.44T>G | β | Causative | β-chain variant | NG_000007.3 | 70638 |
| 69 | CD 14/15 (+G) | N/A | HBB:c.45dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70639 |
| 70 | CD 15 (-T) | N/A | HBB:c.46delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70640 |
| 851 | CD 15 TGG>GGG | Hb Randwick | HBB:c.46T>G | β | Causative | β-chain variant | NG_000007.3 | 70640 |
| 852 | CD 15 TGG>AGG or CGG | Hb Belfast | HBB:c.46T>A | HBB:c.46T>C | β | Causative | β-chain variant | NG_000007.3 | 70640 |
| 72 | CD 15 TGG>TAG | N/A | HBB:c.47G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70641 |
| 73 | CD 15 TGG>TGA | N/A | HBB:c.48G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70642 |
| 2464 | CD 15 TGG>TGC or TGT [Trp>Cys] | Hb Garston | HBB:c.48G>Y | β | Causative | β-chain variant | NG_000007.3 | 70642 |
| 2374 | CD 16 GGC>TGC [Gly>Cys] | Hb Whitmire | HBB:c.49G>T | β | Causative | β-chain variant | NG_000007.3 | 70643 |
| 853 | CD 16 GGC>CGC | Hb D-Bushman | HBB:c.49G>C | β | Causative | β-chain variant | NG_000007.3 | 70643 |
| 854 | CD 16 GGC>GAC (Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven) | Hb J-Baltimore | HBB:c.50G>A | β | Causative | β-chain variant | NG_000007.3 | 70644 |
| 71 | CD 15/16 (+G) | N/A | HBB:c.50dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70644 |
| 74 | CD 15/16 (-G) | N/A | HBB:c.50delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70644 |
| 75 | CD 16 GGC>GG- | N/A | HBB:c.51delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70645 |
| 76 | CD 16 GGC>GGT [Gly>Gly] | N/A | HBB:c.51C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70645 |
| 77 | CD 17 AAG>TAG [Lys>STOP] | N/A | HBB:c.52A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70646 |
| 856 | CD 17 AAG>GAG | Hb Nagasaki | HBB:c.52A>G | β | Causative | β-chain variant | NG_000007.3 | 70646 |
| 857 | CD 17 AAG>CAG (Hb Nicosia) | Hb Nikosia | HBB:c.52A>C | β | Causative | β-chain variant | NG_000007.3 | 70646 |
| 78 | CD 17 (+A) | N/A | HBB:c.53dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70647 |
| 2298 | CD 17 AAG>ATG (Lys>Met) | Hb Ede | HBB:c.53A>T | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70647 |
| 855 | CD 17-19 (-GGTGAA) | Hb Lyon | HBB:c.54_59del | β | Causative | β-chain variant | NG_000007.3 | 70648 |
| 858 | CD 17 AAG>AAC or AAT | Hb J-Amiens | HBB:c.54G>C | HBB:c.54G>T | β | Causative | β-chain variant | NG_000007.3 | 70648 |
| 859 | CD 18 GTG>ATG | Hb Baden | HBB:c.55G>A | β | Causative | β-chain variant | NG_000007.3 | 70649 |
| 3005 | CD 18 GTG>CTG [Val>Leu] | Hb Bhubaneswar | HBB:c.55G>C | β | Causative | β-chain variant | NG_000007.3 | 70649 |
| 860 | CD 18 GTG>GGG | Hb Sinai-Baltimore | HBB:c.56T>G | β | Causative | β-chain variant | NG_000007.3 | 70650 |
| 861 | CD 19 AAC>GAC | Hb Alamo | HBB:c.58A>G | β | Causative | β-chain variant | NG_000007.3 | 70652 |
| 79 | CD 19 AAC>AGC [Asn>Ser] | Hb Malay | HBB:c.59A>G | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 70653 |
| 863 | CD 19 AAC>AAA or AAG | Hb D-Ouled Rabah | HBB:c.60C>A | HBB:c.60C>G | β | Causative | β-chain variant | NG_000007.3 | 70654 |
| 864 | CD 20 GTG>ATG | Hb Olympia | HBB:c.61G>A | β | Causative | β-chain variant | NG_000007.3 | 70655 |
| 865 | CD 20 GTG>GGG | Hb Uxbridge | HBB:c.62T>G | β | Causative | β-chain variant | NG_000007.3 | 70656 |
| 866 | CD 20 GTG>GAG | Hb Trollhättan | HBB:c.62T>A | β | Causative | β-chain variant | NG_000007.3 | 70656 |
| 3609 | CD 20/21 (-TGGA) | N/A | HBB:c.62_65delTGGA | β | Causative | β-thalassaemia | NG_000007.3 | 70656 |
| 2974 | CD 20 GTG>GCG [Val>Ala] | Hb Howden | HBB:c.62T>C | β | Causative | β-chain variant | NG_000007.3 | 70656 |
| 80 | CD 20-22 (GTGGATGAA>GTGAA) | N/A | HBB:c.64_67del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70658 |
| 81 | CD 20/21 (+G) | N/A | HBB:c.64dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70658 |
| 867 | CD 21 GAT>TAT | Hb Yusa | HBB:c.64G>T | β | Causative | β-chain variant | NG_000007.3 | 70658 |
| 868 | CD 21 GAT>CAT | Hb Karlskoga | HBB:c.64G>C | β | Causative | β-chain variant | NG_000007.3 | 70658 |
| 869 | CD 21 GAT>AAT | Hb Cocody | HBB:c.64G>A | β | Causative | β-chain variant | NG_000007.3 | 70658 |
| 870 | CD 21 GAT>GGT | Hb Connecticut | HBB:c.65A>G | β | Causative | β-chain variant | NG_000007.3 | 70659 |
| 871 | CD 21 GAT>GTT | Hb Rocky Mountain | HBB:c.65A>T | β | Causative | β-chain variant | NG_000007.3 | 70659 |
| 873 | CD 22 GAA>CAA | Hb D-Iran | HBB:c.67G>C | β | Causative | β-chain variant | NG_000007.3 | 70661 |
| 874 | CD 22 GAA>AAA | Hb E-Saskatoon | HBB:c.67G>A | β | Causative | β-chain variant | NG_000007.3 | 70661 |
| 83 | CD 22 (GAA>TAA) | N/A | HBB:c.67G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70661 |
| 84 | CD 22-24 ( -7 bp): (-AAGTTGG) | N/A | HBB:c.68_74delAAGTTGG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70662 |
| 875 | CD 22 GAA>GTA | Hb D-Granada | HBB:c.68A>T | β | Causative | β-chain variant | NG_000007.3 | 70662 |
| 876 | CD 22 GAA>GCA (Hb G-Hsin Chu, Hb G-Saskatoon, Hb G-Taegu) | Hb G-Coushatta | HBB:c.68A>C | β | Causative | β-chain variant | NG_000007.3 | 70662 |
| 877 | CD 22 GAA>GGA | Hb G-Taipei | HBB:c.68A>G | β | Causative | β-chain variant | NG_000007.3 | 70662 |
| 872 | CD 22-26 (-12bp) | Hb Olinda | HBB:c.69_80delAGTTGGTGGTGA | β | Causative | β-chain variant | NG_000007.3 | 70663 |
| 2330 | CD 22 GAA>GAT [Glu>Asp] | Hb Bury | HBB:c.69A>T | β | Causative | β-chain variant | NG_000007.3 | 70663 |
| 4106 | CD 23 GTT>TTT; CD 26 GAG>AAG | Hb E-Palmerston North | HBB:c.[70G>T;79G>A] | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 70664, 70673 |
| 879 | CD 23 GTT>ATT [Val>Ile] | Hb Saveh | HBB:c.70G>A | β | Causative | β-chain variant | NG_000007.3 | 70664 |
| 880 | CD 23 GTT>TTT | Hb Palmerston North | HBB:c.70G>T | β | Causative | β-chain variant | NG_000007.3 | 70664 |
| 878 | CD 23/24 (GTTGGT>GGT) | Hb Freiburg | HBB:c.71_73del | β | Causative | β-chain variant | NG_000007.3 | 70665 |
| 881 | CD 23 GTT>GCT | Hb Zoeterwoude | HBB:c.71T>C | β | Causative | β-chain variant | NG_000007.3 | 70665 |
| 882 | CD 23 GTT>GGT | Hb Miyashiro | HBB:c.71T>G | β | Causative | β-chain variant | NG_000007.3 | 70665 |
| 883 | CD 23 GTT>GAT | Hb Strasbourg | HBB:c.71T>A | β | Causative | β-chain variant | NG_000007.3 | 70665 |
| 885 | CD 24 GGT>CGT | Hb Riverdale-Bronx | HBB:c.73G>C | β | Causative | β-chain variant | NG_000007.3 | 70667 |
| 886 | CD 24 GGT>GAT [Gly>Asp] | Hb Moscva | HBB:c.74G>A | β | Causative | β-chain variant | NG_000007.3 | 70668 |
| 887 | CD 24 GGT>GTT | Hb Savannah | HBB:c.74G>T | β | Causative | β-chain variant | NG_000007.3 | 70668 |
| 85 | CD 24 (-G, +CAC) | N/A | HBB:c.74delinsCAC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70668 |
| 2174 | CD 24 -G | N/A | HBB:c.74delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70668 |
| 86 | CD 24 GGT>GGA [Gly>Gly] | N/A | HBB:c.75T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70669 |
| 281 | IVS I [3 end] -44 bp (44 bp deletion) | N/A | HBB:c.76_92+27del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70670 |
| 888 | CD 25 GGT>CGT | Hb G-Taiwan-Ami | HBB:c.76G>C | β | Causative | β-chain variant | NG_000007.3 | 70670 |
| 2452 | CD 25 GGT>AGT [Gly>Ser] | Hb Brazzaville | HBB:c.76G>A | β | Causative | β-chain variant | NG_000007.3 | 70670 |
| 3306 | CD 25/26 -GTG [-Gly] (Hb Higashitochigi, Hb HT) | Hb M Dothan | HBB:c.77_79delGTG | β | Causative | β-chain variant | NG_000007.3 | 70671 |
| 889 | CD 25 GGT>GAT | Hb J-Auckland | HBB:c.77G>A | β | Causative | β-chain variant | NG_000007.3 | 70671 |
| 87 | CD 25/26 (+T) | N/A | HBB:c.78dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70672 |
| 88 | CD 26 GAG>AAG [Glu>Lys] | HbE | HBB:c.79G>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
| 89 | CD 26 (GAG>TAG) | N/A | HBB:c.79G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
| 90 | CD 26 (+T) | N/A | HBB:c.79_80insT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
| 3409 | CD 26 GAG>AAG, IVS I-7 A>G | Hb E-Udon Thani | HBB:c.[79G>A;92+7A>G] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70673, 70693 |
| 3597 | CD 26 (GAG>AAG); CD 104 (AGG>GGG) | Hb E-Gurdaspur | HBB:c.[79G>A;313A>G] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70673, 71037 |
| 4023 | CD 26 GAG>AAG, IVS I-7 A>T | N/A | HBB:c.[79G>A;92+7A>T] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70673, 70693 |
| 891 | CD 26 GAG>AAG, CD 104 AGG>ACG | Hb Corbeil | HBB:c.[79G>A;314G>C] | β | Causative | β-chain variant | NG_000007.3 | 70673 |
| 892 | CD 26 GAG>AAG; CD 121 GAA>CAA | Hb T-Cambodia | HBB:c.[79G>A;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 70673 |
| 3035 | CD 26 GAG>CAG [Glu>Gln] | Hb King's Mill | HBB:c.79G>C | β | Causative | β-chain variant | NG_000007.3 | 70673 |
| 893 | CD 26 GAG>GGG | Hb Aubenas | HBB:c.80A>G | β | Causative | β-chain variant | NG_000007.3 | 70674 |
| 894 | CD 26 GAG>GCG | Hb Tripoli | HBB:c.80A>C | β | Causative | β-chain variant | NG_000007.3 | 70674 |
| 895 | CD 26 GAG>GTG [Glu>Val] | Hb Henri Mondor | HBB:c.80A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70674 |
| 2403 | CD 26 GAG>GAC or GAT [Glu>Asp] | Hb Marijampolė | HBB:c.81G>Y | β | Causative | β-chain variant | NG_000007.3 | 70675 |
| 3635 | CD 26 GAG>GAA | N/A | HBB:c.81G>A | β | Neutral | N/A | NG_000007.3 | 70675 |
| 91 | CD 27 GCC>TCC [Ala>Ser] | Hb Knossos | HBB:c.82G>T | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70676 |
| 897 | CD 27 GCC>GTC | Hb Grange-Blanche | HBB:c.83C>T | β | Causative | β-chain variant | NG_000007.3 | 70677 |
| 898 | CD 27 GCC>GAC | Hb Volga | HBB:c.83C>A | β | Causative | β-chain variant | NG_000007.3 | 70677 |
| 899 | CD 27 GCC>GGC [Ala>Gly] | Hb Siirt | HBB:c.83C>G | β | Causative | β-chain variant | NG_000007.3 | 70677 |
| 3781 | CD 27 GCC>GCT [Ala>Ala] | N/A | HBB:c.84C>T | β | Neutral | N/A | NG_000007.3 | 70678 |
| 900 | CD 28 CTG>ATG [Leu>Met] | Hb Chile | HBB:c.85C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70679 |
| 92 | CD 27/28 (+C) | N/A | HBB:c.85dupC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70679 |
| 93 | CD 28 (-C) | N/A | HBB:c.85delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70679 |
| 94 | CD 28 CTG>CGG [Leu >Arg] | Hb Chesterfield | HBB:c.86T>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70680 |
| 901 | CD 28 CTG>CCG [Leu>Pro] | Hb Genova | HBB:c.86T>C | β | Causative | β-chain variant | NG_000007.3 | 70680 |
| 902 | CD 28 CTG>CAG [Leu>Gln] | Hb Saint Louis | HBB:c.86T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70680 |
| 904 | CD 29 GGC>AGC [Gly>Ser] | Hb Tizi-Ouzou | HBB:c.88G>A | β | Causative | β-chain variant | NG_000007.3 | 70682 |
| 2523 | CD 29 GGC>CGC [Gly>Arg] | Hb Dompierre | HBB:c.88G>C | β | Causative | β-chain variant | NG_000007.3 | 70682 |
| 905 | CD 29 GGC>GAC | Hb Lufkin | HBB:c.89G>A | β | Causative | β-chain variant | NG_000007.3 | 70683 |
| 95 | CD 28/29 (-G) | N/A | HBB:c.89delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70683 |
| 96 | CD 29 (C>T) or IVS I (-3) GGC>GGT (Gly>Gly) | N/A | HBB:c.90C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70684 |
| 2044 | CD 29 GGC>GGG [Gly>Gly] | N/A | NG_000007.3:g.70684C>G | β | Neutral | N/A | NG_000007.3 | 70684 |
| 3710 | CD 30 AGG>TGG [Arg>Trp] | Hb New Berlin | HBB:c.91A>T | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 70685 |
| 97 | CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly) | N/A | HBB:c.91A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70685 |
| 98 | CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg] | N/A | HBB:c.91A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70685 |
| 3484 | CD 30 (-A) or IVS I (-2) AGG>-GG | N/A | HBB:c.91delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70685 |
| 99 | CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys) | N/A | HBB:c.92G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70686 |
| 100 | CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan) | Hb Monroe | HBB:c.92G>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70686 |
| 101 | IVS I-1 G>A | N/A | HBB:c.92+1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70687 |
| 102 | IVS I-1 (G>T) | N/A | HBB:c.92+1G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70687 |
| 103 | IVS I-1 (G>C) | N/A | HBB:c.92+1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70687 |
| 104 | IVS I-2 (T>G) | N/A | HBB:c.92+2T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70688 |
| 105 | IVS I-2 (T>C) | N/A | HBB:c.92+2T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70688 |
| 106 | IVS I-2 (T>A) | N/A | HBB:c.92+2T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70688 |
| 107 | IVS I-5 (G>C) | N/A | HBB:c.92+5G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70691 |
| 108 | IVS I-5 (G>T) | N/A | HBB:c.92+5G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70691 |
| 109 | IVS I-5 (G>A) | N/A | HBB:c.92+5G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70691 |
| 111 | IVS I-6 (T>C) | N/A | HBB:c.92+6T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70692 |
| 3565 | IVS I-6 (T>G) | N/A | HBB:c.92+6T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70692 |
| 112 | IVS I-7 A>T | N/A | HBB:c.92+7A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70693 |
| 3276 | IVS I-7 A>G | N/A | HBB:c.92+7A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70693 |
| 3445 | IVS I-13 G>T | N/A | HBB:c.92+13G>T | β | Neutral | N/A | NG_000007.3 | 70699 |
| 2045 | IVS I-16 A>C | N/A | NG_000007.3:g.70702A>C | β | Neutral | N/A | NG_000007.3 | 70702 |
| 3246 | IVS I-44 A>G | N/A | HBB:c.92+44A>G | β | Neutral | N/A | NG_000007.3 | 70730 |
| 3690 | IVS I-65 (G>A) | N/A | HBB:c.92+65G>A | β | Causative | β-thalassaemia | NG_000007.3 | 70751 |
| 2046 | IVS I-91 C>T | N/A | HBB:c.93-40C>T | β | Neutral | N/A | NG_000007.3 | 70777 |
| 2047 | IVS I-93 G>A | N/A | NG_000007.3:g.70779G>A | β | Neutral | N/A | NG_000007.3 | 70779 |
| 3066 | IVS I-108 T>C | N/A | HBB:c.93-23T>C | β | Causative | β-thalassaemia | NG_000007.3 | 70794 |
| 280 | IVS I [3' end] (-25 bp) (25 bp deletion) | N/A | NC_000011.10(NM_000518.4):c.93-22_95del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70795 |
| 2173 | IVS I-109 (-T) | N/A | HBB:c.93-22delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70795 |
| 113 | IVS I-110 G>A | N/A | HBB:c.93-21G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70796 |
| 121 | IVS I [3' end] (-17 bp) (17 bp deletion) | N/A | HBB:c.93-17_93-1delTATTTTCCCACCCTTAG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70800 |
| 3008 | IVS I-115 (A>T) | N/A | HBB:c.93-16A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70801 |
| 114 | IVS I-116 (T>G) | N/A | HBB:c.93-15T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70802 |
| 124 | IVS I [3' end] (+22bp) | N/A | NG_000007.3:g.70807_70828dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70807 |
| 115 | IVS I-128 (T>G) | N/A | HBB:c.93-3T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70814 |
| 116 | IVS I-129 (A>C) | N/A | HBB:c.93-2A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70815 |
| 117 | IVS I-129 (A>G) | N/A | HBB:c.93-2A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70815 |
| 4067 | IVS I-129 (A>T) | N/A | HBB:c.93-2A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70815 |
| 118 | IVS I-130 G>C | N/A | HBB:c.93-1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70816 |
| 119 | IVS I-130 (G>A) | N/A | HBB:c.93-1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70816 |
| 120 | IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser) | Hb Tacoma II | HBB:c.93G>C | β | Causative | β-thalassaemia | NG_000007.3 | 70817 |
| 125 | CD 30/31 +CGG [+Arg] | N/A | HBB:c.93_94insCGG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70817 |
| 907 | CD 30 AGG>AGT [Arg>Ser] | Hb Tacoma | HBB:c.93G>T | β | Causative | β-chain variant | NG_000007.3 | 70817 |
| 908 | CD 31 CTG>GTG | Hb Badalona | HBB:c.94C>G | β | Causative | β-chain variant | NG_000007.3 | 70818 |
| 126 | CD 31 (-C) | N/A | HBB:c.94delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70818 |
| 909 | CD 31 CTG>CGG | Hb Hakkari | HBB:c.95T>G | β | Causative | β-chain variant | NG_000007.3 | 70819 |
| 910 | CD 31 CTG>CCG | Hb Yokohama | HBB:c.95T>C | β | Causative | β-chain variant | NG_000007.3 | 70819 |
| 911 | CD 32 CTG>GTG | Hb Muscat | HBB:c.97C>G | β | Causative | β-chain variant | NG_000007.3 | 70821 |
| 127 | CD 32 CTG>CAG: CD 98 GTG>ATG | Hb Medicine Lake | HBB:c.[98T>A; 295G>A] | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70822 |
| 912 | CD 32 CTG>CCG | Hb Perth | HBB:c.98T>C | β | Causative | β-chain variant | NG_000007.3 | 70822 |
| 913 | CD 32 CTG>CAG [Leu>Gln] | Hb Clermont Ferrand | HBB:c.98T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70822 |
| 915 | CD 32 CTG>CGG [Leu>Arg] | Hb Castilla | HBB:c.98T>G | β | Causative | β-chain variant | NG_000007.3 | 70822 |
| 916 | CD 33 GTG>ATG | Hb Rio Claro | HBB:c.100G>A | β | Causative | β-chain variant | NG_000007.3 | 70824 |
| 3364 | CD 33 GTG>TTG [Val>Leu] | Hb Venissieux | HBB:c.100G>T | β | Causative | β-chain variant | NG_000007.3 | 70824 |
| 131 | CD 33-35 (-TGGTCT) | Hb Dresden | HBB:c.101_106delTGGTCT | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70825 |
| 129 | CD 33/34 (GTGGTC>GTC) | Hb Korea | HBB:c.102_104del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70826 |
| 130 | CD 33-34 (-G) | N/A | HBB:c.102_103delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70826 |
| 919 | CD 34 GTC>CTC | Hb Nantes | HBB:c.103G>C | β | Causative | β-chain variant | NG_000007.3 | 70827 |
| 920 | CD 34 GTC>TTC | Hb Pitie-Salpetriere | HBB:c.103G>T | β | Causative | β-chain variant | NG_000007.3 | 70827 |
| 921 | CD 34 GTC>GAC | Hb Santander | HBB:c.104T>A | β | Causative | β-chain variant | NG_000007.3 | 70828 |
| 3700 | CD 34 GTC>GCC [Val>Ala] | Hb San Francisco-KP | HBB:c.104T>C | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70828 |
| 2331 | CD 35 TAC>CAC [Tyr>His] | Hb Fulwood | HBB:c.106T>C | β | Causative | β-chain variant | NG_000007.3 | 70830 |
| 3795 | CD 35 TAC>GAC [Tyr>Asp] | Hb Oristano | HBB:c.106T>G | β | Causative | β-chain variant | NG_000007.3 | 70830 |
| 132 | CD 35 TAC>TGC [Tyr>Cys] | N/A | HBB:c.107A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70831 |
| 922 | CD 35 TAC>TTC [Tyr>Phe] | Hb Philly | HBB:c.107A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70831 |
| 133 | CD 35 TAC>TAA | N/A | HBB:c.108C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70832 |
| 3023 | CD 35 TAC>TAG | N/A | HBB:c.108C>G | β | Causative | β-thalassaemia | NG_000007.3 | 70832 |
| 3692 | CD 35 (TAC>TA-) | N/A | HBB:c.108delC | β | Causative | β-thalassaemia | NG_000007.3 | 70832 |
| 2048 | CD 35 TAC>TAT [Tyr>Tyr] | N/A | NG_000007.3:g.70832C>T | β | Neutral | N/A | NG_000007.3 | 70832 |
| 923 | CD 36 CCT>ACT | Hb Linköping | HBB:c.109C>A | β | Causative | β-chain variant | NG_000007.3 | 70833 |
| 924 | CD 36 CCT>GCT | Hb Brie Comte Robert | HBB:c.109C>G | β | Causative | β-chain variant | NG_000007.3 | 70833 |
| 925 | CD 36 CCT>TCT | Hb North Chicago | HBB:c.109C>T | β | Causative | β-chain variant | NG_000007.3 | 70833 |
| 926 | CD 36 CCT>CGT [Pro>Arg] | Hb Sunnybrook | HBB:c.110C>G | β | Causative | β-chain variant | NG_000007.3 | 70834 |
| 927 | CD 36 CCT>CAT | Hb Vila Real | HBB:c.110C>A | β | Causative | β-chain variant | NG_000007.3 | 70834 |
| 128 | CD 36 CCT>C-T (CD 36 (-C)) | N/A | HBB:c.110del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70834 |
| 135 | CD 36-39 (-8 bp) | N/A | HBB:c.111_118delTTGGACCC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70835 |
| 134 | CD 36/37 (-T) | N/A | HBB:c.112delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70836 |
| 928 | CD 37 TGG>AGG [Trp>Arg] | Hb Rothschild | HBB:c.112T>A | β | Causative | β-chain variant | NG_000007.3 | 70836 |
| 929 | CD 37 TGG>GGG | Hb Howick | HBB:c.112T>G | β | Causative | β-chain variant | NG_000007.3 | 70836 |
| 930 | CD 37 TGG>TCG | Hb Hirose | HBB:c.113G>C | β | Causative | β-chain variant | NG_000007.3 | 70837 |
| 138 | CD 37 (TGG>TAG) | N/A | HBB:c.113G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70837 |
| 3918 | CD 37 TGG>TTG [Trp>Leu] | Hb Alessandria | HBB:c.113G>T | β | Causative | β-chain variant | NG_000007.3 | 70837 |
| 3282 | CD 37 TGG>TGC [Trp>Cys] (Hb Kent) | N/A | HBB:c.114G>C | β | Causative | β-chain variant | NG_000007.3 | 70838 |
| 136 | CD 37 (-G) | N/A | HBB:c.114delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70838 |
| 137 | CD 37 (TGG>TGA) | N/A | HBB:c.114G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70838 |
| 139 | CD 37-39 (-7 bp): (-GACCCAG) | N/A | HBB:c.114_120del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70838 |
| 931 | CD 37 TGG>TGT [Trp>Cys] (Hb Greendale) | Hb Kent | HBB:c.114G>T | β | Causative | β-chain variant | NG_000007.3 | 70838 |
| 932 | CD 38 ACC>CCC | Hb Hazebrouck | HBB:c.115A>C | β | Causative | β-chain variant | NG_000007.3 | 70839 |
| 4112 | CD 38 ACC>GCC [Thr>Ala] | Hb Oviedo | HBB:c.115A>G | β | Causative | β-chain variant | NG_000007.3 | 70839 |
| 2280 | CD 38 ACC>AGC | N/A | HBB:c.116C>G | β | Causative | β-chain variant | NG_000007.3 | 70840 |
| 933 | CD 38 ACC>AAC | Hb Hinwil | HBB:c.116C>A | β | Causative | β-chain variant | NG_000007.3 | 70840 |
| 934 | CD 38 ACC>ATC | Hb La Coruna | HBB:c.116C>T | β | Causative | β-chain variant | NG_000007.3 | 70840 |
| 141 | CD 38/39 (-CC) | N/A | HBB:c.117_118delCC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70841 |
| 140 | CD 38/39 (-C) | N/A | HBB:c.118delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70842 |
| 142 | CD 39 CAG>TAG [Gln>STOP] | N/A | HBB:c.118C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70842 |
| 935 | CD 39 CAG>AAG | Hb Alabama | HBB:c.118C>A | β | Causative | β-chain variant | NG_000007.3 | 70842 |
| 936 | CD 39 CAG>GAG | Hb Vaasa | HBB:c.118C>G | β | Causative | β-chain variant | NG_000007.3 | 70842 |
| 937 | CD 39 CAG>CGG [Gln>Arg] | Hb Tianshui | HBB:c.119A>G | β | Causative | β-chain variant | NG_000007.3 | 70843 |
| 2393 | CD 39 -A | N/A | HBB:c.119delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70843 |
| 2962 | CD 39 CAG>CCG [Gln>Pro] | Hb Hyden | HBB:c.119A>C | β | Causative | β-chain variant | NG_000007.3 | 70843 |
| 938 | CD 39 CAG>CAC | Hb San Bruno | HBB:c.120G>C | β | Causative | β-chain variant | NG_000007.3 | 70844 |
| 4045 | CD 40 AGG>GGG [Arg>Gly] | Hb Montpellier | HBB:c.121A>G | β | Causative | β-chain variant | NG_000007.3 | 70845 |
| 2544 | CD 40 AGG>ACG [Arg>Thr] | Hb Alcorn County | HBB:c.122G>C | β | Causative | β-chain variant | NG_000007.3 | 70846 |
| 939 | CD 40 AGG>AAG [Arg>Lys] | Hb Athens-GA | HBB:c.122G>A | β | Causative | β-chain variant | NG_000007.3 | 70846 |
| 940 | CD 40 AGG>ATG [Arg>Met] | Hb Taipei-Tien | HBB:c.122G>T | β | Causative | β-chain variant | NG_000007.3 | 70846 |
| 941 | CD 40 AGG>AGT [Arg>Ser] | Hb Austin | HBB:c.123G>T | β | Causative | β-chain variant | NG_000007.3 | 70847 |
| 143 | CD 40 (-G) | N/A | HBB:c.123delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70847 |
| 144 | CD 40 (+86 bp) (HGSA) | N/A | HBB:c.123_208dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70847 |
| 3004 | CD 41 TTC>GTC [Phe>Val] | Hb Valme | HBB:c.124T>G | β | Causative | β-chain variant | NG_000007.3 | 70848 |
| 145 | CD 40/41 (+T) | N/A | HBB:c.125dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70849 |
| 942 | CD 41 TTC>TGC | Hb Ilmenau | HBB:c.125T>G | β | Causative | β-chain variant | NG_000007.3 | 70849 |
| 943 | CD 41 TTC>TCC | Hb Denver | HBB:c.125T>C | β | Causative | β-chain variant | NG_000007.3 | 70849 |
| 944 | CD 41 TTC>TAC | Hb Mequon | HBB:c.125T>A | β | Causative | β-chain variant | NG_000007.3 | 70849 |
| 146 | CD 41 (-C) | N/A | HBB:c.126delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70850 |
| 147 | CD 41/42 (-CTTT) (CD 41/42 (-TTCT), CD 41/42 (-TCTT)) | N/A | HBB:c.126_129delCTTT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70850 |
| 2387 | CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu] | Hb Brevedent | HBB:c.[202G>A ;126C>G] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70850 |
| 2972 | CD 41 TTC>TTA [Phe>Leu] | Hb Wilton | HBB:c.126C>A | β | Causative | β-chain variant | NG_000007.3 | 70850 |
| 2461 | CD 42 TTT>ATT [Phe>Ile] | Hb Oslo | HBB:c.127T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70851 |
| 945 | CD 42 (-TTT) | Hb Bruxelles | HBB:c.127_129delTTT | β | Causative | β-chain variant | NG_000007.3 | 70851 |
| 947 | CD 42 TTT>CTT [Phe>Leu] | Hb Louisville | HBB:c.127T>C | β | Causative | β-chain variant | NG_000007.3 | 70851 |
| 948 | CD 42 TTT>GTT (Hb Warsaw) | Hb Sendagi | HBB:c.127T>G | β | Causative | β-chain variant | NG_000007.3 | 70851 |
| 949 | CD 42 TTT>TCT [Phe>Ser] | Hb Hammersmith | HBB:c.128T>C | β | Causative | β-chain variant | NG_000007.3 | 70852 |
| 2332 | CD 42 TTT>TGT [Phe>Cys] | Hb Little Venice | HBB:c.128T>G | β | Causative | β-chain variant | NG_000007.3 | 70852 |
| 2954 | CD 42 TTT>TT- | Hb Yala | HBB:c.129delT | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 70853 |
| 4079 | CD 42 TTT>TTA [Phe>Leu] | Hb Suqian | HBB:c.129T>A | β | Causative | β-chain variant | NG_000007.3 | 70853 |
| 148 | CD 42/43 (+T) | N/A | HBB:c.129dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70853 |
| 149 | CD 42/43 (+G) | N/A | HBB:c.130dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70854 |
| 150 | CD 43 (GAG>TAG) | N/A | HBB:c.130G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70854 |
| 3594 | CD 43 (GAG>TAG);CD 71/72 (+A) | N/A | HBB:c.[130G>T;217dupA] | β | Causative | β-thalassaemia | NG_000007.3 | 70854, 70941 |
| 950 | CD 43 GAG>CAG | Hb Hoshida | HBB:c.130G>C | β | Causative | β-chain variant | NG_000007.3 | 70854 |
| 951 | CD 43 GAG>AAG [Glu>Lys] | Hb Hornchurch | HBB:c.130G>A | β | Causative | β-chain variant | NG_000007.3 | 70854 |
| 946 | CD 43-46 (-9bp) | Hb Niteroi | HBB:c.131_139del | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70855 |
| 952 | CD 43 GAG>GGG [Glu>Gly] | Hb Haringey | HBB:c.131A>G | β | Causative | β-chain variant | NG_000007.3 | 70855 |
| 953 | CD 43 GAG>GCG | Hb G-Galveston | HBB:c.131A>C | β | Causative | β-chain variant | NG_000007.3 | 70855 |
| 954 | CD 44 TCC>TGC | Hb Mississippi | HBB:c.134C>G | β | Causative | β-chain variant | NG_000007.3 | 70858 |
| 3969 | CD 44 TCC>TTC [Ser>Phe] | Hb Narges Lab | HBB:c.134C>T | β | Causative | β-chain variant | NG_000007.3 | 70858 |
| 151 | CD 44 -C | N/A | HBB:c.135delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70859 |
| 2531 | CD 45 TTT>GTT [Phe>Val] | Hb Duc Pho | HBB:c.136T>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70860 |
| 955 | CD 45 TTT>TCT | Hb Cheverly | HBB:c.137T>C | β | Causative | β-chain variant | NG_000007.3 | 70861 |
| 956 | CD 45 TTT>TAT [Phe>Tyr] | Hb Den Haag | HBB:c.137T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70861 |
| 957 | CD 45 TTT>TGT | Hb Arta | HBB:c.137T>G | β | Causative | β-chain variant | NG_000007.3 | 70861 |
| 152 | CD 45 (-T) | N/A | HBB:c.138delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70862 |
| 153 | CD 45 (+T) | N/A | HBB:c.138dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70862 |
| 154 | CD 45/46 (+A) | N/A | HBB:c.138_139insA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70862 |
| 958 | CD 46 GGG>AGG | Hb Gainesville-GA | HBB:c.139G>A | β | Causative | β-chain variant | NG_000007.3 | 70863 |
| 3567 | CD 46 GGG>CGG [Gly>Arg] | Hb Cenxi | HBB:c.139G>C | β | Causative | β-chain variant | NG_000007.3 | 70863 |
| 959 | CD 46 GGG>GAG | Hb K-Ibadan | HBB:c.140G>A | β | Causative | β-chain variant | NG_000007.3 | 70864 |
| 960 | CD 47 GAT>AAT [Asp>Asn] | Hb G-Copenhagen | HBB:c.142G>A | β | Causative | β-chain variant | NG_000007.3 | 70866 |
| 961 | CD 47 GAT>CAT [Asp>His] | Hb Maryland | HBB:c.142G>C | β | Causative | β-chain variant | NG_000007.3 | 70866 |
| 962 | CD 47 GAT>TAT | Hb Maputo | HBB:c.142G>T | β | Causative | β-chain variant | NG_000007.3 | 70866 |
| 2960 | CD 46/47 (+G) | N/A | HBB:c.142_142dupG | β | Causative | β-thalassaemia | NG_000007.3 | 70866 |
| 155 | CD 47 (+A) | N/A | HBB:c.143dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70867 |
| 156 | CD 47/48 (+ATCT) | N/A | HBB:c.143_146dupATCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70867 |
| 963 | CD 47 GAT>GCT | Hb Avicenna | HBB:c.143A>C | β | Causative | β-chain variant | NG_000007.3 | 70867 |
| 964 | CD 47 GAT>GGT | Hb Gavello | HBB:c.143A>G | β | Causative | β-chain variant | NG_000007.3 | 70867 |
| 965 | CD 47 GAT>GTT | Hb Muravera | HBB:c.143A>T | β | Causative | β-chain variant | NG_000007.3 | 70867 |
| 966 | CD 48 CTG>CGG | Hb Okaloosa | HBB:c.146T>G | β | Causative | β-chain variant | NG_000007.3 | 70870 |
| 967 | CD 48 CTG>CCG | Hb Bab-Saadoun | HBB:c.146T>C | β | Causative | β-chain variant | NG_000007.3 | 70870 |
| 2187 | CD 48 -T | N/A | HBB:c.146delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70870 |
| 3494 | CD 49 TCC>CCC [Ser>Pro] | Hb Yunnan | HBB:c.148T>C | β | Causative | β-chain variant | NG_000007.3 | 70872 |
| 2407 | CD 49-55 (-19 bp +4 bp) | Hb Martinez | HBB:c.149_167delinsAGCT | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 70873 |
| 968 | CD 49 TCC>TGC | Hb Colima | HBB:c.149C>G | β | Causative | β-chain variant | NG_000007.3 | 70873 |
| 969 | CD 49 TCC>TTC | Hb Las Palmas | HBB:c.149C>T | β | Causative | β-chain variant | NG_000007.3 | 70873 |
| 157 | CD 49 (-C) | N/A | HBB:c.150delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70874 |
| 3571 | CD 50 ACT>GCT [Thr>Ala] | N/A | HBB:c.151A>G | β | Causative | β-thalassaemia | NG_000007.3 | 70875 |
| 3940 | CD 50 ACT>TCT [Thr>Ser]; IVS II-654 C>T | Hb Zurich-Langstrasse | HBB:c.[151A>T;316-197C>T] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70875, 71693 |
| 970 | CD 50 ACT>TCT [Thr>Ser] | Hb Zurich-Langstrasse | HBB:c.151A>T | β | Causative | β-chain variant | NG_000007.3 | 70875 |
| 971 | CD 50 ACT>AAG or AAA | Hb Edmonton | HBB:c.[152C>A;153T>A] | HBB:c.[152C>A;153T>G] | β | Causative | β-chain variant | NG_000007.3 | 70876 |
| 2049 | CD 50 ACT>ACA [Thr>Thr] | N/A | NG_000007.3:g.70877T>A | β | Neutral | N/A | NG_000007.3 | 70877 |
| 158 | CD 50 (-T) | N/A | HBB:c.153delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70877 |
| 972 | CD 51 CCT>TCT, CD 52 GAT>AAT | Hb Grenoble | HBB:c.[154C>T;157G>A] | β | Causative | β-chain variant | NG_000007.3 | 70878 |
| 973 | CD 51 CCT>CAT | Hb North Manchester | HBB:c.155C>A | β | Causative | β-chain variant | NG_000007.3 | 70879 |
| 974 | CD 51 CCT>CGT | Hb Willamette | HBB:c.155C>G | β | Causative | β-chain variant | NG_000007.3 | 70879 |
| 159 | CD 51 (-C) | N/A | HBB:c.155delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70879 |
| 975 | CD 52 GAT>TAT [Asp>Tyr] | Hb Languidic | HBB:c.157G>T | β | Causative | β-chain variant | NG_000007.3 | 70881 |
| 976 | CD 52 GAT>CAT | Hb Summer Hill | HBB:c.157G>C | β | Causative | β-chain variant | NG_000007.3 | 70881 |
| 977 | CD 52 GAT>AAT | Hb Osu Christiansborg | HBB:c.157G>A | β | Causative | β-chain variant | NG_000007.3 | 70881 |
| 978 | CD 52 GAT>GGT | Hb Hokusetsu | HBB:c.158A>G | β | Causative | β-chain variant | NG_000007.3 | 70882 |
| 979 | CD 52 GAT>GCT | Hb Ocho Rios | HBB:c.158A>C | β | Causative | β-chain variant | NG_000007.3 | 70882 |
| 980 | CD 52 GAT>GTT [Asp>Val] | Hb Akron | HBB:c.158A>T | β | Causative | β-chain variant | NG_000007.3 | 70882 |
| 2959 | CD 52 GAT>G-T | N/A | HBB:c.158delA | β | Causative | β-thalassaemia | NG_000007.3 | 70882 |
| 982 | CD 53 GCT>ACT | Hb Acharnes | HBB:c.160G>A | β | Causative | β-chain variant | NG_000007.3 | 70884 |
| 2964 | CD 53 GCT>GTT [Ala>Val] | Hb Midnapore | HBB:c.161C>T | β | Causative | β-chain variant | NG_000007.3 | 70885 |
| 160 | CD 53 (-T) | N/A | HBB:c.162delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70886 |
| 161 | CD 53/54 (+G) | N/A | HBB:c.163dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70887 |
| 4094 | CD 54 GTT>-TT | N/A | HBB:c.163del | β | Causative | β-thalassaemia | NG_000007.3 | 70887 |
| 3368 | CD 54 GTT>CTT [Val>Leu] | Hb Askew | HBB:c.163G>C | β | Causative | β-chain variant | NG_000007.3 | 70887 |
| 983 | CD 54 GTT>GAT | Hb Jacksonville | HBB:c.164T>A | β | Causative | β-chain variant | NG_000007.3 | 70888 |
| 162 | CD 54 -T | N/A | HBB:c.165delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70889 |
| 164 | CD 54-58 (-13bp) | N/A | HBB:c.165_177delTATGGGCAACCCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70889 |
| 163 | CD 54/55 (+A) | N/A | HBB:c.166dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70890 |
| 165 | CD 55 (-A) | N/A | HBB:c.166delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70890 |
| 2990 | CD 55-59 (-13 bp) | N/A | HBB:c.167_179del | β | Causative | β-thalassaemia | NG_000007.3 | 70891 |
| 984 | CD 55 ATG>AAG | Hb Matera | HBB:c.167T>A | β | Causative | β-chain variant | NG_000007.3 | 70891 |
| 985 | CD 56 GGC>TGC | Hb Leeds | HBB:c.169G>T | β | Causative | β-chain variant | NG_000007.3 | 70893 |
| 986 | CD 56 GGC>CGC | Hb Hamadan | HBB:c.169G>C | β | Causative | β-chain variant | NG_000007.3 | 70893 |
| 987 | CD 56 GGC>CGC; CD 86 GCC>CCC | Hb Poissy | HBB:c.[169G>C;259G>C] | β | Causative | β-chain variant | NG_000007.3 | 70893 |
| 988 | CD 56 GGC>GAC (Hb J-Korat , Hb J-Manado , Hb J-Meinung) | Hb J-Bangkok | HBB:c.170G>A | β | Causative | β-chain variant | NG_000007.3 | 70894 |
| 989 | CD 56-60 (-12bp) | Hb Tochigi | HBB:c.170_181del | β | Causative | β-chain variant | NG_000007.3 | 70894 |
| 166 | CD 56-60 (+14 bp) | N/A | HBB:c.170_183dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70894 |
| 3780 | CD 56 GGC>GGT [Gly>Gly] | N/A | HBB:c.171C>T | β | Neutral | N/A | NG_000007.3 | 70895 |
| 990 | CD 57 AAC>CAC [Asn>His] | Hb Sidcup | HBB:c.172A>C | β | Causative | β-chain variant | NG_000007.3 | 70896 |
| 991 | CD 57 AAC>GAC | Hb J-Daloa | HBB:c.172A>G | β | Causative | β-chain variant | NG_000007.3 | 70896 |
| 992 | CD 57 AAC>ACC [Asn>Thr] | Hb Viseu | HBB:c.173A>C | β | Causative | β-chain variant | NG_000007.3 | 70897 |
| 2333 | CD 57 AAC>AGC [Asn>Ser] | Hb Cork | HBB:c.173A>G | β | Causative | β-chain variant | NG_000007.3 | 70897 |
| 3779 | CD 57 AAC>AAT [Asn>Asn] | N/A | HBB:c.174C>T | β | Neutral | N/A | NG_000007.3 | 70898 |
| 993 | CD 57 AAC>AAA or AAG | Hb G-Ferrara | HBB:c.174C>A | HBB:c.174C>G | β | Causative | β-chain variant | NG_000007.3 | 70898 |
| 994 | CD 58 CCT>CAT [Pro>His] | Hb Sheffield | HBB:c.176C>A | β | Causative | β-chain variant | NG_000007.3 | 70900 |
| 995 | CD 58 CCT>CGT [Pro>Arg] | Hb Dhofar | HBB:c.176C>G | β | Causative | β-chain variant | NG_000007.3 | 70900 |
| 167 | CD 58 (+C) | N/A | HBB:c.176dupC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70900 |
| 3311 | CD 58 CCT>C-T | N/A | HBB:c.176delC | β | Causative | β-thalassaemia | NG_000007.3 | 70900 |
| 169 | CD 59 (AAG>TAG) | N/A | HBB:c.178A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70902 |
| 3061 | CD 59 (+T) | N/A | HBB:c.178_179insT | β | Causative | β-thalassaemia | NG_000007.3 | 70902 |
| 996 | CD 59 AAG>GAG | Hb I-High Wycombe | HBB:c.178A>G | β | Causative | β-chain variant | NG_000007.3 | 70902 |
| 2998 | CD 59 AAG>CAG [ Lys>Gln] | Hb Hillsborought | HBB:c.178A>C | β | Causative | β-chain variant | NG_000007.3 | 70902 |
| 3747 | CD 59 AAG>ATG [Lys>Met] | Hb Dahua | HBB:c.179A>T | β | Causative | β-chain variant | NG_000007.3 | 70903 |
| 997 | CD 59 AAG>ACG [Lys>Thr] | Hb J-Kaohsiung | HBB:c.179A>C | β | Causative | β-chain variant | NG_000007.3 | 70903 |
| 168 | CD 59 -A | N/A | HBB:c.179delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70903 |
| 4086 | CD 59 AAG>AA-, CD 59 (-G) | N/A | HBB:c.180del | β | Causative | β-thalassaemia | NG_000007.3 | 70904 |
| 998 | CD 59 AAG>AAC or AAT | Hb J-Lome | HBB:c.180G>C | HBB:c.180G>T | β | Causative | β-chain variant | NG_000007.3 | 70904 |
| 2050 | CD 59 AAG>AAA [Lys>Lys] | N/A | HBB:c.180G>A | β | Neutral | N/A | NG_000007.3 | 70904 |
| 999 | CD 60 GTG>CTG [Val>Leu] | Hb Yatsushiro | HBB:c.181G>C | β | Causative | β-chain variant | NG_000007.3 | 70905 |
| 3855 | CD 60 GTG>-TG [Val>STOP] | N/A | HBB:c.181delG | β | Causative | β-thalassaemia | NG_000007.3 | 70905 |
| 170 | CD 60 GTG>GAG [Val>Glu] | Hb Cagliari | HBB:c.182T>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70906 |
| 1000 | CD 60 GTG>GCG [Leu>Ala] | Hb Collingwood | HBB:c.182T>C | β | Causative | β-chain variant | NG_000007.3 | 70906 |
| 3298 | CD 60-61 (-6bp): (-TGAAGG) | Hb Tavapy | HBB:c.182_187delTGAAGG | β | Causative | β-chain variant | NG_000007.3 | 70906 |
| 1002 | CD 61 AAG>CAG | Hb Pocos de Caldas | HBB:c.184A>C | β | Causative | β-chain variant | NG_000007.3 | 70908 |
| 1003 | CD 61 AAG>GAG | Hb N-Seattle | HBB:c.184A>G | β | Causative | β-chain variant | NG_000007.3 | 70908 |
| 172 | CD 61 (AAG>TAG) | N/A | HBB:c.184A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70908 |
| 1004 | CD 61 AAG>ATG | Hb Bologna | HBB:c.185A>T | β | Causative | β-chain variant | NG_000007.3 | 70909 |
| 1005 | CD 61 AAG>AAC or AAT [Lys>Asn] | Hb Hikari | HBB:c.186G>C | HBB:c.186G>T | β | Causative | β-chain variant | NG_000007.3 | 70910 |
| 1006 | CD 62 GCT>CCT | Hb Duarte | HBB:c.187G>C | β | Causative | β-chain variant | NG_000007.3 | 70911 |
| 2190 | CD 62-83 (+65 bp) | N/A | HBB:c.187_251dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70911 |
| 3589 | CD 62-65 (-12bp) | N/A | HBB:c.187_198delGCTCATGGCAAG | β | Causative | β-thalassaemia, Haemolytic anaemia | NG_000007.3 | 70911 |
| 1007 | CD 62 GCT>GAT | Hb J-Europa | HBB:c.188C>A | β | Causative | β-chain variant | NG_000007.3 | 70912 |
| 3342 | CD 62 GCT>GTT [Ala>Val] | Hb Hachioji | HBB:c.188C>T | β | Causative | β-chain variant | NG_000007.3 | 70912 |
| 171 | CD 62-64 (-7bp) | N/A | HBB:c.189_195delTCATGGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70913 |
| 1008 | CD 63 CAT>AAT [His>Asn] | Hb Haná | HBB:c.190C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70914 |
| 1009 | CD 63 CAT>TAT (Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad) | Hb M-Saskatoon | HBB:c.190C>T | β | Causative | β-chain variant | NG_000007.3 | 70914 |
| 1010 | CD 63 CAT>CCT | Hb Bicêtre | HBB:c.191A>C | β | Causative | β-chain variant | NG_000007.3 | 70915 |
| 1011 | CD 63 CAT>CGT [His>Arg] (Hb Zurich) | Hb Zürich | HBB:c.191A>G | β | Causative | β-chain variant | NG_000007.3 | 70915 |
| 2456 | CD 63 CAT>CTT [His>Leu] | Hb Temple Street | HBB:c.191A>T | β | Causative | β-chain variant | NG_000007.3 | 70915 |
| 3629 | CD 64 GGC>AGC [Gly>Ser] | Hb Hezhou | HBB:c.193G>A | β | Causative | β-chain variant | NG_000007.3 | 70917 |
| 2976 | CD 64 GGC>GTC [Gly>Val] | Hb Calgary | HBB:c.194G>T | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 70918 |
| 1012 | CD 64 GGC>GCC | Hb Aubagne | HBB:c.194G>C | β | Causative | β-chain variant | NG_000007.3 | 70918 |
| 1013 | CD 64 GGC>GAC | Hb J-Calabria | HBB:c.194G>A | β | Causative | β-chain variant | NG_000007.3 | 70918 |
| 173 | CD 64 (-G) | N/A | HBB:c.194delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70918 |
| 3944 | CD 64 (+G) | N/A | HBB:c.194dup | β | Causative | β-thalassaemia | NG_000007.3 | 70918 |
| 1014 | CD 65 AAG>CAG | Hb J-Cairo | HBB:c.196A>C | β | Causative | β-chain variant | NG_000007.3 | 70920 |
| 3559 | CD 65 AAG>GAG [Lys>Glu] | Hb Guangxi | HBB:c.196A>G | β | Causative | β-chain variant | NG_000007.3 | 70920 |
| 1016 | CD 65 AAG>ATG | Hb J-Antakya | HBB:c.197A>T | β | Causative | β-chain variant | NG_000007.3 | 70921 |
| 1017 | CD 65 AAG>AAC or AAT | Hb J-Sicilia | HBB:c.198G>C | HBB:c.198G>T | β | Causative | β-chain variant | NG_000007.3 | 70922 |
| 1018 | CD 66 AAA>GAA | Hb I-Toulouse | HBB:c.199A>G | β | Causative | β-chain variant | NG_000007.3 | 70923 |
| 2525 | CD 68/69 (+AAAGTGCTC) | Hb Bronx | HBB:c.199_207dupAAAGTGCTC | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70923 |
| 174 | CD 66 AAA>TAA [Lys>STOP] | N/A | HBB:c.199A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70923 |
| 3854 | CD 66/67 (-AAAG) | N/A | HBB:c.199_202delAAAG | β | Causative | β-thalassaemia | NG_000007.3 | 70923 |
| 3367 | CD 66 AAA>ATA [Lys>Ile] | Hb Vigo | HBB:c.200A>T | β | Causative | β-chain variant | NG_000007.3 | 70924 |
| 1019 | CD 66 AAA>ACA | Hb Chico | HBB:c.200A>C | β | Causative | β-chain variant | NG_000007.3 | 70924 |
| 1020 | CD 66 AAA>AAT | Hb Ulm | HBB:c.201A>T | β | Causative | β-chain variant | NG_000007.3 | 70925 |
| 2188 | CD 66 -A | N/A | HBB:c.201delA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70925 |
| 1021 | CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol) | Hb Alesha | HBB:c.202G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70926 |
| 1023 | CD 67 GTG>GGG [Val>Gly] | Hb Manukau | HBB:c.203T>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70927 |
| 1024 | CD 67 GTG>GAG | Hb M-Milwaukee-I | HBB:c.203T>A | β | Causative | β-chain variant | NG_000007.3 | 70927 |
| 1025 | CD 67 GTG>GCG | Hb Sydney | HBB:c.203T>C | β | Causative | β-chain variant | NG_000007.3 | 70927 |
| 175 | CD 67 (-TG) | N/A | HBB:c.203_204delGT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70927 |
| 1029 | CD 69 (+GCTCGG) | Hb Nishinomiya | HBB:c.204_209dupGCTCGG | β | Causative | β-chain variant | NG_000007.3 | 70928 |
| 1026 | CD 68 CTC>TTC | Hb Loves Park | HBB:c.205C>T | β | Causative | β-chain variant | NG_000007.3 | 70929 |
| 1027 | CD 68 CTC>CAC | Hb Brisbane | HBB:c.206T>A | β | Causative | β-chain variant | NG_000007.3 | 70930 |
| 1028 | CD 68 CTC>CCC [Leu>Pro] | Hb Mizuho | HBB:c.206T>C | β | Causative | β-chain variant | NG_000007.3 | 70930 |
| 3019 | CD 68-70 (-7bp): (-TCGGTGC) | N/A | HBB:c.206_212delTCGGTGC | β | Causative | β-thalassaemia | NG_000007.3 | 70930 |
| 3778 | CD 68 CTC>CTT [Leu>Leu] | N/A | HBB:c.207C>T | β | Neutral | N/A | NG_000007.3 | 70931 |
| 3851 | CD 68 CTC>CTA [Leu>Leu] | N/A | HBB:c.207C>A | β | Neutral | N/A | NG_000007.3 | 70931 |
| 3798 | CD 69 GGT>TGT [Gly>Cys] | Hb Miguel Servet | HBB:c.208G>T | β | Causative | β-chain variant | NG_000007.3 | 70932 |
| 1030 | CD 69 GGT>AGT | Hb City of Hope | HBB:c.208G>A | β | Causative | β-chain variant | NG_000007.3 | 70932 |
| 1031 | CD 69 GGT>CGT | Hb Kenitra | HBB:c.208G>C | β | Causative | β-chain variant | NG_000007.3 | 70932 |
| 1032 | CD 69 GGT>GAT | Hb Rambam | HBB:c.209G>A | β | Causative | β-chain variant | NG_000007.3 | 70933 |
| 2522 | CD 69 GGT>G-T | N/A | HBB:c.209delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70933 |
| 2189 | CD 69 -T | N/A | HBB:c.210delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70934 |
| 1033 | CD 70 GCC>CCC [Ala>Pro] | Hb Abington | HBB:c.211G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70935 |
| 3799 | CD 70 GCC>ACC [Ala>Thr] | Hb La Mesa | HBB:c.211G>A | β | Causative | β-chain variant | NG_000007.3 | 70935 |
| 1034 | CD 70 GCC>GAC | Hb Seattle | HBB:c.212C>A | β | Causative | β-chain variant | NG_000007.3 | 70936 |
| 1035 | CD 70 GCC>GGC [Ala>Gly] | Hb Hershey | HBB:c.212C>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70936 |
| 1036 | CD 70 GCC>GTC | Hb Marineo | HBB:c.212C>T | β | Causative | β-chain variant | NG_000007.3 | 70936 |
| 1037 | CD 71 TTT>TCT | Hb Christchurch | HBB:c.215T>C | β | Causative | β-chain variant | NG_000007.3 | 70939 |
| 2969 | CD 71 TTT>TAT [Phe>Tyr] | Hb Saint-Clair | HBB:c.215T>A | β | Causative | β-chain variant | NG_000007.3 | 70939 |
| 176 | CD 71 (+T) | N/A | HBB:c.216dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70940 |
| 2462 | CD 71 -T | N/A | HBB:c.216delT | β | Causative | β-thalassaemia | NG_000007.3 | 70940 |
| 177 | CD 71/72 (+A) | N/A | HBB:c.217dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70941 |
| 178 | CD 72-73 (-AGTGA, +T) | N/A | HBB: c.217_221delAGTGAinsT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70941 |
| 2401 | CD 72 AGT>ACT [Ser>Thr] | Hb Phimai | HBB:c.218G>C | β | Causative | β-chain variant | NG_000007.3 | 70942 |
| 2181 | CD 72/73 (+T) | N/A | HBB:c.219dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70943 |
| 3374 | CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr] | Hb South China | HBB:c.[219T>A;220G>T] | β | Causative | β-thalassaemia | NG_000007.3 | 70943, 70944 |
| 1038 | CD 72 AGT>AGA | Hb Headington | HBB:c.219T>A | β | Causative | β-chain variant | NG_000007.3 | 70943 |
| 1039 | CD 73 GAT>TAT | Hb Vancouver | HBB:c.220G>T | β | Causative | β-chain variant | NG_000007.3 | 70944 |
| 1040 | CD 73 GAT>AAT (Hb Korle-Bu) | Hb G-Accra | HBB:c.220G>A | β | Causative | β-chain variant | NG_000007.3 | 70944 |
| 1043 | CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln) | Hb Montreal | HBB:c.220_228delinsGCTCGGTGCCAG | β | Causative | β-chain variant | NG_000007.3 | 70944 |
| 2478 | CD 73 GAT>TAT>TTT [Asp>Phe] | Hb Meylan | HBB:c.[220G>T ;221A>T] | β | Causative | β-chain variant | NG_000007.3 | 70944 |
| 1041 | CD 73 GAT>GGT | Hb Tilburg | HBB:c.221A>G | β | Causative | β-chain variant | NG_000007.3 | 70945 |
| 1042 | CD 73 GAT>GTT | Hb Mobile | HBB:c.221A>T | β | Causative | β-chain variant | NG_000007.3 | 70945 |
| 1045 | CD 74 GGC>AGC [Gly>Ser] | Hb Kokomo | HBB:c.223G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70947 |
| 1046 | CD 74 GGC>CGC [Gly>Arg] | Hb Aalborg | HBB:c.223G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70947 |
| 1044 | CD 74-76 (-GCCTGG) | Hb Saint-Antoine | HBB:c.224_229delGCCTGG | β | Causative | β-chain variant | NG_000007.3 | 70948 |
| 1047 | CD 74 GGC>GTC | Hb Bushwick | HBB:c.224G>T | β | Causative | β-chain variant | NG_000007.3 | 70948 |
| 1048 | CD 74 GGC>GAC | Hb Shepherds Bush | HBB:c.224G>A | β | Causative | β-chain variant | NG_000007.3 | 70948 |
| 1049 | CD 75 (-CTG) | Hb Vicksburg | HBB:c.226_228delCTG | β | Causative | β-chain variant | NG_000007.3 | 70950 |
| 179 | CD 75 (-C) | N/A | HBB:c.226delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70950 |
| 1050 | CD 75 CTG>CCG; CD 141 (-CTG) | Hb Atlanta-Coventry | HBB:c.[227T>C;424_426delCTG] | β | Causative | β-chain variant | NG_000007.3 | 70951 |
| 1051 | CD 75 CTG>CCG | Hb Atlanta | HBB:c.227T>C | β | Causative | β-chain variant | NG_000007.3 | 70951 |
| 1052 | CD 75 CTG>CGG | Hb Pasadena | HBB:c.227T>G | β | Causative | β-chain variant | NG_000007.3 | 70951 |
| 4080 | CD 75 CTG>CAG [Leu>Gln] | Hb Raklev | HBB:c.227T>A | β | Causative | β-chain variant | NG_000007.3 | 70951 |
| 1053 | CD 76 GCT>CCT | Hb Calais | HBB:c.229G>C | β | Causative | β-chain variant | NG_000007.3 | 70953 |
| 180 | CD 76 GCT>--T (-GC) | N/A | HBB:c.229_230delGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70953 |
| 181 | CD 76 (-C) | N/A | HBB:c.230delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70954 |
| 1054 | CD 76 GCT>GTT [Ala>Val] | Hb Harlequin | HBB:c.230C>T | β | Causative | β-chain variant | NG_000007.3 | 70954 |
| 1055 | CD 76 GCT>GAT | Hb J-Chicago | HBB:c.230C>A | β | Causative | β-chain variant | NG_000007.3 | 70954 |
| 1056 | CD 77 CAC>TAC; CD 80 AAC>AGC | Hb Villeparisis | HBB:c.[232C>T;242A>G] | β | Causative | β-chain variant | NG_000007.3 | 70956 |
| 1057 | CD 77 CAC>TAC | Hb Fukuyama | HBB:c.232C>T | β | Causative | β-chain variant | NG_000007.3 | 70956 |
| 1058 | CD 77 CAC>GAC | Hb J-Iran | HBB:c.232C>G | β | Causative | β-chain variant | NG_000007.3 | 70956 |
| 2405 | CD 77 CAC>AAC [His>Asn] | Hb Heilbronn | HBB:c.232C>A | β | Causative | β-chain variant | NG_000007.3 | 70956 |
| 2533 | CD 77 CAC>CCC [His>Pro] | Hb Brooklyn | HBB:c.233A>C | β | Causative | β-chain variant | NG_000007.3 | 70957 |
| 1059 | CD 77 CAC>CTC [His>Leu] | Hb St. Joseph's | HBB:c.233A>T | β | Causative | β-chain variant | NG_000007.3 | 70957 |
| 1060 | CD 77 CAC>CGC [His>Arg] | Hb Costa Rica | HBB:c.233A>G | β | Causative | β-chain variant | NG_000007.3 | 70957 |
| 1061 | CD 77 CAC>CAG | Hb Vienna | HBB:c.234C>G | β | Causative | β-chain variant | NG_000007.3 | 70958 |
| 2422 | CD 78 CTG>GTG [Leu>Val] | Hb Ullevaal | HBB:c.235C>G | β | Causative | β-chain variant | NG_000007.3 | 70959 |
| 182 | CD 78 CTG>-TG | N/A | HBB:c.235delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70959 |
| 3299 | CD 77/78 (+C) | N/A | HBB:c.235dupC | β | Causative | β-thalassaemia | NG_000007.3 | 70959 |
| 3371 | CD 78 CTG>CCG [Leu>Pro] | Hb Penang | HBB:c.236T>C | β | Causative | β-chain variant | NG_000007.3 | 70960 |
| 1062 | CD 78 CTG>CGG | Hb Quin-Hai | HBB:c.236T>G | β | Causative | β-chain variant | NG_000007.3 | 70960 |
| 3225 | CD 78/85 (-20bp) | N/A | HBB:c.237_256delGGACAACCTCAAGGGCACCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70961 |
| 1063 | CD 79 GAC>CAC | Hb Tigraye | HBB:c.238G>C | β | Causative | β-chain variant | NG_000007.3 | 70962 |
| 1064 | CD 79 GAC>AAC | Hb Yaizu | HBB:c.238G>A | β | Causative | β-chain variant | NG_000007.3 | 70962 |
| 1065 | CD 79 GAC>TAC | Hb Tampa | HBB:c.238G>T | β | Causative | β-chain variant | NG_000007.3 | 70962 |
| 1066 | CD 79 GAC>GGC [Asp>Gly] | Hb G-Hsi-Tsou | HBB:c.239A>G | β | Causative | β-chain variant | NG_000007.3 | 70963 |
| 3310 | CD 79 GAC>GCC [Asp>Ala] | Hb Torbay | HBB:c.239A>C | β | Causative | β-chain variant | NG_000007.3 | 70963 |
| 3919 | CD 79 GAC>GAA [Asp>Glu] | Hb Kalundborg | HBB:c.240C>A | β | Causative | β-chain variant | NG_000007.3 | 70964 |
| 2307 | CD 80 AAC>CAC [Asn>His] | Hb East Timor | HBB:c.241A>C | β | Causative | β-chain variant | NG_000007.3 | 70965 |
| 2391 | CD 80 AAC>GAC [Asn>Asp] | Hb Valley Park | HBB:c.241A>G | β | Causative | β-chain variant | NG_000007.3 | 70965 |
| 2445 | CD 80 -AAC [-Asn] | Hb Saint-Chamond | HBB:c.241_243delAAC | β | Causative | β-chain variant | NG_000007.3 | 70965 |
| 1067 | CD 80 AAC>TAC [Asn>Tyr] | Hb Hounslow | HBB:c.241A>T | β | Causative | β-chain variant | NG_000007.3 | 70965 |
| 3392 | CD 80 AAC>AGC [Asn>Ser] | Hb Moncloa | HBB:c.242A>G | β | Causative | β-chain variant | NG_000007.3 | 70966 |
| 1068 | CD 80 AAC>AAG [Asn>Lys] (Hb Gifu) | Hb G-Szuhu | HBB:c.243C>G | β | Causative | β-chain variant | NG_000007.3 | 70967 |
| 2443 | CD 81 CTC>TTC [Leu>Phe] | Hb Seville | HBB:c.244C>T | β | Causative | β-chain variant | NG_000007.3 | 70968 |
| 183 | CD 80/81 (-C) | N/A | HBB:c.244delC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70968 |
| 184 | CD 81-87 (-22 bp) | N/A | HBB:c.244_265del22 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70968 |
| 1069 | CD 81 CTC>CGC | Hb Baylor | HBB:c.245T>G | β | Causative | β-chain variant | NG_000007.3 | 70969 |
| 1070 | CD 81 CTC>CAC | Hb La Roche-sur-Yon | HBB:c.245T>A | β | Causative | β-chain variant | NG_000007.3 | 70969 |
| 3777 | CD 81 CTC>CTG [Leu>Leu] | N/A | HBB:c.246C>G | β | Neutral | N/A | NG_000007.3 | 70970 |
| 1071 | CD 82 AAG>CAG | Hb Tsurumai | HBB:c.247A>C | β | Causative | β-chain variant | NG_000007.3 | 70971 |
| 1072 | CD 82 AAG>GAG | Hb Gàmbara | HBB:c.247A>G | β | Causative | β-chain variant | NG_000007.3 | 70971 |
| 1073 | CD 82 AAG>ACG | Hb Rahere | HBB:c.248A>C | β | Causative | β-chain variant | NG_000007.3 | 70972 |
| 1074 | CD 82 AAG>ATG | Hb Helsinki | HBB:c.248A>T | β | Causative | β-chain variant | NG_000007.3 | 70972 |
| 1075 | CD 82 AAG>AGG | Hb Taradale | HBB:c.248A>G | β | Causative | β-chain variant | NG_000007.3 | 70972 |
| 1076 | CD 82 AAG>AAC | Hb Providence | HBB:c.249G>C | β | Causative | β-chain variant | NG_000007.3 | 70973 |
| 1077 | CD 83 GGC>CGC [Gly>Arg] | Hb Muskegon | HBB:c.250G>C | β | Causative | β-chain variant | NG_000007.3 | 70974 |
| 1078 | CD 83 GGC>TGC [Gly>Cys] | Hb Ta-Li | HBB:c.250G>T | β | Causative | β-chain variant | NG_000007.3 | 70974 |
| 2534 | CD 83 GGC>AGC [Gly>Ser] | Hb Basking Ridge | HBB:c.250G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70974 |
| 1079 | CD 83 GGC>GAC | Hb Pyrgos | HBB:c.251G>A | β | Causative | β-chain variant | NG_000007.3 | 70975 |
| 185 | CD 82/83 (-G) | N/A | HBB:c.251delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70975 |
| 186 | CD 84-86 (-8 bp): (-CACCTTTG) | N/A | HBB:c.253_260del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70977 |
| 1080 | CD 84 ACC>GCC | Hb Saale | HBB:c.253A>G | β | Causative | β-chain variant | NG_000007.3 | 70977 |
| 1081 | CD 84 ACC>AAC [Thr>Asn] | Hb Beaujolais | HBB:c.254C>A | β | Causative | β-chain variant | NG_000007.3 | 70978 |
| 1082 | CD 84 ACC>ATC | Hb Kofu | HBB:c.254C>T | β | Causative | β-chain variant | NG_000007.3 | 70978 |
| 187 | CD 84/85 (+C) | N/A | HBB:c.255dupC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70979 |
| 3965 | CD 84-87 (-CTTTGCCACA) (+TTTTTCTCAG) (Hb Donguan-Dongcheng) | Hb Wanjiang | HBB:c.255_264delinsTTTTTCTCAG | β | Causative | β-chain variant | NG_000007.3 | 70979 |
| 3323 | CD 85 TTT>CTT [Phe>Leu] | Hb San Martin | HBB:c.256T>C | β | Causative | β-chain variant | NG_000007.3 | 70980 |
| 2975 | CD 85 TTT>TGT [Phe>Cys] | Hb Grantham | HBB:c.257T>G | β | Causative | β-chain variant | NG_000007.3 | 70981 |
| 1083 | CD 85 TTT>TCT (Hb Bryn Mawr) | Hb Buenos Aires | HBB:c.257T>C | β | Causative | β-chain variant | NG_000007.3 | 70981 |
| 3586 | CD 85 TTT>TTG [Phe>Leu] | Hb Kennisis | HBB:c.258T>G | β | Causative | β-chain variant | NG_000007.3 | 70982 |
| 188 | CD 84-86 (+T) | N/A | HBB:c.258dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70982 |
| 1084 | CD 86 GCC>CCC | Hb Cardarelli | HBB:c.259G>C | β | Causative | β-chain variant | NG_000007.3 | 70983 |
| 1085 | CD 86 GCC>ACC>ATC [Ala>Ile] | Hb Nebraska | HBB:c.[259G>A;260C>T] | β | Causative | β-chain variant | NG_000007.3 | 70983 |
| 3065 | CD 86 GCC>ACC [Ala>Thr] | Hb Seoul | HBB:c.259G>A | β | Causative | β-chain variant | NG_000007.3 | 70983 |
| 1086 | CD 86 GCC>GAC | Hb Olomouc | HBB:c.260C>A | β | Causative | β-chain variant | NG_000007.3 | 70984 |
| 2454 | CD 86 GCC>GTC [Ala>Val] | Hb Izmir | HBB:c.260C>T | β | Causative | β-chain variant | NG_000007.3 | 70984 |
| 3722 | CD 86 GCC>GC- | N/A | HBB:c.261delC | β | Causative | β-thalassaemia | NG_000007.3 | 70985 |
| 1087 | CD 87 (-ACA) | Hb Tours | HBB:c.262_264delACA | β | Causative | β-chain variant | NG_000007.3 | 70986 |
| 1088 | CD 87 ACA>CCA | Hb Valletta | HBB:c.262A>C | β | Causative | β-chain variant | NG_000007.3 | 70986 |
| 1089 | CD 87 ACA>ATA | Hb Quebec-Chori | HBB:c.263C>T | β | Causative | β-chain variant | NG_000007.3 | 70987 |
| 1090 | CD 87 ACA>AAA | Hb D-Ibadan | HBB:c.263C>A | β | Causative | β-chain variant | NG_000007.3 | 70987 |
| 3377 | CD 87 ACA>AGA [Thr>Arg] | Hb Saint Jean d Ardieres | HBB:c.263C>G | β | Causative | β-chain variant | NG_000007.3 | 70987 |
| 4044 | CD 87-91 (-14 bp) | N/A | HBB:c.263_276del | β | Causative | β-thalassaemia | NG_000007.3 | 70987 |
| 3253 | CD 88 CTG>--G (HBB:c.265_266delCT) | N/A | HBB:c.265_266del | β | Causative | β-thalassaemia | NG_000007.3 | 70989 |
| 1091 | CD 88 CTG>GTG [Leu>Val] | Hb Oofuna | HBB:c.265C>G | β | Causative | β-chain variant | NG_000007.3 | 70989 |
| 3009 | CD 88 CTG>ATG [Leu>Met] | Hb NISER | HBB:c.265C>A | β | Causative | β-chain variant | NG_000007.3 | 70989 |
| 1092 | CD 88 CTG>CGG | Hb Borås | HBB:c.266T>G | β | Causative | β-chain variant | NG_000007.3 | 70990 |
| 1093 | CD 88 CTG>CCG | Hb Santa Ana | HBB:c.266T>C | β | Causative | β-chain variant | NG_000007.3 | 70990 |
| 189 | CD 88 (+T) | N/A | HBB:c.266dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70990 |
| 190 | CD 88 (-TG) | N/A | HBB:c.266_267del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70990 |
| 2051 | CD 88 CTG>CTC [Leu>Leu] | N/A | NG_000007.3:g.70991G>C | β | Neutral | N/A | NG_000007.3 | 70991 |
| 3287 | CD 89-93 (-14bp): (-AGTGAGCTGCACTG) | N/A | HBB:c.268_281delAGTGAGCTGCACTG | β | Causative | β-thalassaemia | NG_000007.3 | 70992 |
| 1095 | CD 89 AGT>AAT | Hb Créteil | HBB:c.269G>A | β | Causative | β-chain variant | NG_000007.3 | 70993 |
| 1096 | CD 89 AGT>ACT | Hb Villaverde | HBB:c.269G>C | β | Causative | β-chain variant | NG_000007.3 | 70993 |
| 1094 | CD 89 AGT>AGR [Ser>Arg] | Hb Vanderbilt | HBB:c.270T>R | β | Causative | β-chain variant | NG_000007.3 | 70994 |
| 2965 | CD 89-90 (-TGAG) | Hb Wilde | HBB:c.270_273delTGAG | β | Causative | β-chain variant | NG_000007.3 | 70994 |
| 191 | CD 89/90 (AGTGAG>AGAG) | N/A | HBB:c.270_271del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70994 |
| 192 | CD 90 GAG>TAG | N/A | HBB:c.271G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70995 |
| 3044 | CD 90 GAG>-AG | N/A | HBB:c.271delG | β | Causative | β-thalassaemia | NG_000007.3 | 70995 |
| 1097 | CD 90 GAG>AAG | Hb Agenogi | HBB:c.271G>A | β | Causative | β-chain variant | NG_000007.3 | 70995 |
| 1118 | CD 94/95 +15 bp [+Glu-Leu-His-Cys-Asp] | Hb Fairfax | HBB:c.271_285dupGAGCTGCACTGTGAC | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70995 |
| 2491 | CD 90 GAG>CAG [Glu>Gln] | Hb Henan | HBB:c.271G>C | β | Causative | β-chain variant | NG_000007.3 | 70995 |
| 1098 | CD 90 GAG>GGG | Hb Roseau-Pointe a Pitre | HBB:c.272A>G | β | Causative | β-chain variant | NG_000007.3 | 70996 |
| 3593 | CD 90 GAG>GCG [Glu>Ala] | Hb Shenzhen | HBB:c.272A>C | β | Causative | β-chain variant | NG_000007.3 | 70996 |
| 3057 | CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG) | N/A | HBB:c.272_295dup | β | Causative | β-thalassaemia | NG_000007.3 | 70996 |
| 1099 | CD 90 GAG>GAC [Glu>Asp] | Hb Pierre-Bénite | HBB:c.273G>C | β | Causative | β-chain variant | NG_000007.3 | 70997 |
| 1124 | CD 95/96 (+15 bp) | Hb Koriyama | HBB:c.274_288dup | β | Causative | β-chain variant | NG_000007.3 | 70998 |
| 3133 | IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu] | N/A | HBB:c.[315+1G>A; 274C>T] | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70998, 71040 |
| 193 | CD 91 CTG>C-G | Hb Morgantown | HBB:c.275del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70999 |
| 194 | CD 91 (+T) | N/A | HBB:c.275dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70999 |
| 1101 | CD 91 CTG>CCG | Hb Sabine | HBB:c.275T>C | β | Causative | β-chain variant | NG_000007.3 | 70999 |
| 1102 | CD 91 CTG>CGG | Hb Caribbean | HBB:c.275T>G | β | Causative | β-chain variant | NG_000007.3 | 70999 |
| 1103 | CD 92 CAC>GAC | Hb J-Altgeld Gardens | HBB:c.277C>G | β | Causative | β-chain variant | NG_000007.3 | 71001 |
| 1104 | CD 92 CAC>TAC (Hb M-Akita, Hb M-Hyde Park) | Hb M-Milwaukee-2 | HBB:c.277C>T | β | Causative | β-chain variant | NG_000007.3 | 71001 |
| 1105 | CD 92 CAC>AAC | Hb Redondo | HBB:c.277C>A | β | Causative | β-chain variant | NG_000007.3 | 71001 |
| 1106 | CD 92 CAC>CCC | Hb Newcastle | HBB:c.278A>C | β | Causative | β-chain variant | NG_000007.3 | 71002 |
| 1107 | CD 92 CAC>CGC | Hb Mozhaisk | HBB:c.278A>G | β | Causative | β-chain variant | NG_000007.3 | 71002 |
| 1108 | CD 92 CAC>CCC; CD 104 AGG>AGC | Hb Duino | HBB:c.[278A>C;315G>C] | β | Causative | β-chain variant | NG_000007.3 | 71002, 71039 |
| 1109 | CD 92 CAC>CAG [His>Gln] (Hb Istanbul) | Hb Saint Etienne | HBB:c.279C>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71003 |
| 1100 | CD 93-97 (-15 bp) | Hb Gun Hill | Hb GH | HBB:c.280_294delTGTGACAAGCTGCAC | β | Causative | β-chain variant | NG_000007.3 | 71004 |
| 1110 | CD 93 TGT>CGT: CD 121 GAA>CAA | Hb Cleveland | HBB:c.[280T>C;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 71004 |
| 1111 | CD 93 TGT>CGT | Hb Okazaki | HBB:c.280T>C | β | Causative | β-chain variant | NG_000007.3 | 71004 |
| 1112 | CD 93 TGT>TAT | Hb Fort Dodge | HBB:c.281G>A | β | Causative | β-chain variant | NG_000007.3 | 71005 |
| 2442 | CD 93 TGT>TCT [Cys>Ser] | Hb Riesa | HBB:c.281G>C | β | Causative | β-chain variant | NG_000007.3 | 71005 |
| 2441 | CD 93 TGT>TGG [Cys>Trp] | Hb Santa Giusta Sardegna | HBB:c.282T>G | β | Causative | β-chain variant | NG_000007.3 | 71006 |
| 195 | CD 93/94 (+TG) | Hb Agnana | HBB:c.282_283dupTG | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71006 |
| 1114 | CD 94 GAC>TAC | Hb Geldrop St Anna | HBB:c.283G>T | β | Causative | β-chain variant | NG_000007.3 | 71007 |
| 1115 | CD 94 GAC>CAC | Hb Barcelona | HBB:c.283G>C | β | Causative | β-chain variant | NG_000007.3 | 71007 |
| 1116 | CD 94 GAC>AAC | Hb Bunbury | HBB:c.283G>A | β | Causative | β-chain variant | NG_000007.3 | 71007 |
| 1117 | CD 94 GAC>GGC | Hb Chandigarh | HBB:c.284A>G | β | Causative | β-chain variant | NG_000007.3 | 71008 |
| 1119 | CD 95 AAG>GAG (Hb Hopkins-I, Hb Jenkins, Hb N-Memphis, Hb Kenwood) | Hb N-Baltimore | HBB:c.286A>G | β | Causative | β-chain variant | NG_000007.3 | 71010 |
| 2545 | CD 95 AAG>CAG [Lys>Gln] | Hb J-Valencia | HBB:c.286A>C | β | Causative | β-chain variant | NG_000007.3 | 71010 |
| 1120 | CD 95 AAG>ATG | Hb J-Cordoba | HBB:c.287A>T | β | Causative | β-chain variant | NG_000007.3 | 71011 |
| 196 | CD 95 (+A) | N/A | HBB:c.287dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71011 |
| 1121 | CD 95 AAG>AAY [Lys>Asn] | Hb Detroit | HBB:c.288G>Y | β | Causative | β-chain variant | NG_000007.3 | 71012 |
| 3776 | CD 95 AAG>AAA [Lys>Lys] | N/A | HBB:c.288G>A | β | Neutral | N/A | NG_000007.3 | 71012 |
| 1122 | CD 96 CTG>GTG | Hb Regina | HBB:c.289C>G | β | Causative | β-chain variant | NG_000007.3 | 71013 |
| 1123 | CD 96 CTG>CCG | Hb Debrousse | HBB:c.290T>C | β | Causative | β-chain variant | NG_000007.3 | 71014 |
| 3876 | CD 96 CTG>CGG [Leu>Arg] | Hb Laibin | HBB:c.290T>G | β | Causative | β-chain variant | NG_000007.3 | 71014 |
| 3888 | CD 97/98 (+GCAC) | N/A | HBB:c.291_294dup | β | Causative | β-thalassaemia | NG_000007.3 | 71015 |
| 1126 | CD 97 CAC>TAC | Hb Moriguchi | HBB:c.292C>T | β | Causative | β-chain variant | NG_000007.3 | 71016 |
| 1127 | CD 97 CAC>AAC | Hb Santa Clara | HBB:c.292C>A | β | Causative | β-chain variant | NG_000007.3 | 71016 |
| 1125 | CD 97/98 (-ACG) | Hb Galicia | HBB:c.293_295delACG | β | Causative | β-chain variant | NG_000007.3 | 71017 |
| 1128 | CD 97 CAC>CTC | Hb Wood | HBB:c.293A>T | β | Causative | β-chain variant | NG_000007.3 | 71017 |
| 1129 | CD 97 CAC>CCC | Hb Nagoya | HBB:c.293A>C | β | Causative | β-chain variant | NG_000007.3 | 71017 |
| 1130 | CD 97 CAC>CAA, also CAC>CAG | Hb Malmö | HBB:c.294C>A | HBB:c.294C>G | β | Causative | β-chain variant | NG_000007.3 | 71018 |
| 1131 | CD 98 GTG>ATG [Val>Met] (Hb San Francisco (Pacific), Hb Ube-1) | Hb Köln | HBB:c.295G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71019 |
| 2413 | CD 98 GTG>CTG [Val>Leu] | Hb Phou Bia | HBB:c.295G>C | β | Causative | β-chain variant | NG_000007.3 | 71019 |
| 1132 | CD 98 GTG>GGG | Hb Nottingham | HBB:c.296T>G | β | Causative | β-chain variant | NG_000007.3 | 71020 |
| 1133 | CD 98 GTG>GAG [Val>Glu] | Hb Mainz | HBB:c.296T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71020 |
| 1134 | CD 98 GTG>GCG | Hb Djelfa | HBB:c.296T>C | β | Causative | β-chain variant | NG_000007.3 | 71020 |
| 2966 | CD 98/99 (+TG) | Hb Patagonia | HBB:c.296_297dup | β | Causative | β-chain variant | NG_000007.3 | 71020 |
| 1135 | CD 99 GAT>TAT | Hb Ypsilanti | HBB:c.298G>T | β | Causative | β-chain variant | NG_000007.3 | 71022 |
| 1136 | CD 99 GAT>CAT | Hb Yakima | HBB:c.298G>C | β | Causative | β-chain variant | NG_000007.3 | 71022 |
| 1137 | CD 99 GAT>AAT | Hb Kempsey | HBB:c.298G>A | β | Causative | β-chain variant | NG_000007.3 | 71022 |
| 1138 | CD 99 GAT>GGT | Hb Hotel-Dieu | HBB:c.299A>G | β | Causative | β-chain variant | NG_000007.3 | 71023 |
| 1139 | CD 99 GAT>GCT | Hb Radcliffe | HBB:c.299A>C | β | Causative | β-chain variant | NG_000007.3 | 71023 |
| 1140 | CD 99 GAT>GTT | Hb Chemilly | HBB:c.299A>T | β | Causative | β-chain variant | NG_000007.3 | 71023 |
| 1141 | CD 99 GAT>GAA [Asp>Glu] | Hb Coimbra | HBB:c.300T>A | β | Causative | β-chain variant | NG_000007.3 | 71024 |
| 1142 | CD 100 CCT>GCT [Pro>Ala] | Hb Nice | HBB:c.301C>G | β | Causative | β-chain variant | NG_000007.3 | 71025 |
| 2399 | CD 100 CCT>ACT [Pro>Thr] | Hb Bellevue II | HBB:c.301C>A | β | Causative | β-chain variant | NG_000007.3 | 71025 |
| 2412 | CD 100 CCT>TCT [Pro>Ser] | Hb Niort | HBB:c.301C>T | β | Causative | β-chain variant | NG_000007.3 | 71025 |
| 198 | CD 100 (-CC,+TCTGAGAACTT) >158aa | N/A | HBB:c.301_302delCCinsTCTGAGAACTT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71025 |
| 1143 | CD 100 CCT>CGT | Hb New Mexico | HBB:c.302C>G | β | Causative | β-chain variant | NG_000007.3 | 71026 |
| 1144 | CD 100 CCT>CTT | Hb Brigham | HBB:c.302C>T | β | Causative | β-chain variant | NG_000007.3 | 71026 |
| 1145 | CD 101 GAG>CAG | Hb Rush | HBB:c.304G>C | β | Causative | β-chain variant | NG_000007.3 | 71028 |
| 1146 | CD 101 GAG>AAG | Hb British Columbia | HBB:c.304G>A | β | Causative | β-chain variant | NG_000007.3 | 71028 |
| 1147 | CD 101 GAG>GGG | Hb Alberta | HBB:c.305A>G | β | Causative | β-chain variant | NG_000007.3 | 71029 |
| 1148 | CD 101 GAG>GCG | Hb Youngstown | Hb St Mary's | HBB:c.305A>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71029 |
| 2432 | CD 101 GAG>GTG [Glu>Val] | Hb Belfort | HBB:c.305A>T | β | Causative | β-chain variant | NG_000007.3 | 71029 |
| 1149 | CD 101 GAG>GAC or GAT | Hb Potomac | HBB:c.306G>C | HBB:c.306G>T | β | Causative | β-chain variant | NG_000007.3 | 71030 |
| 1150 | CD 102 AAC>TAC | Hb Saint Mandé | HBB:c.307A>T | β | Causative | β-chain variant | NG_000007.3 | 71031 |
| 1151 | CD 102 AAC>CAC [Asn>His] | Hb Canebiere | HBB:c.307A>C | β | Causative | β-chain variant | NG_000007.3 | 71031 |
| 1152 | CD 102 AAC>AGC | Hb Beth Israel | HBB:c.308A>G | β | Causative | β-chain variant | NG_000007.3 | 71032 |
| 1153 | CD 102 AAC>ACC [Asn>Thr] (Hb Reissmann) | Hb Kansas | HBB:c.308A>C | β | Causative | β-chain variant | NG_000007.3 | 71032 |
| 2279 | CD 102 AAC>ATCAC | N/A | HBB:c.308insTC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71032 |
| 1154 | CD 102 AAC>AAA or AAG | Hb Richmond | HBB:c.309C>A | HBB:c.309C>G | β | Causative | β-chain variant | NG_000007.3 | 71033 |
| 1155 | CD 103 TTC>GTC | Hb Sparta | HBB:c.310T>G | β | Causative | β-chain variant | NG_000007.3 | 71034 |
| 1156 | CD 103 TTC>ATC | Hb Saint Nazaire | HBB:c.310T>A | β | Causative | β-chain variant | NG_000007.3 | 71034 |
| 3385 | CD 103 TTC>TAC [Phe>Tyr] | Hb Gavle | HBB:c.311T>A | β | Causative | β-chain variant | NG_000007.3 | 71035 |
| 4114 | CD 103 TTC>TCC [Phe>Ser] | Hb Koskullskulle | HBB:c.311T>C | β | Causative | β-chain variant | NG_000007.3 | 71035 |
| 1157 | CD 103 TTC>TTG | Hb Heathrow | HBB:c.312C>G | β | Causative | β-chain variant | NG_000007.3 | 71036 |
| 1158 | CD 104 AGG>TGG | Hb Sainte Eugénie | HBB:c.313A>T | β | Causative | β-chain variant | NG_000007.3 | 71037 |
| 2406 | CD 104 AGG>GGG [Arg>Gly] | Hb Nîmes | HBB:c.313A>G | β | Causative | β-chain variant | NG_000007.3 | 71037 |
| 3636 | CD 104 (-A) | N/A | HBB:c.313delA | β | Causative | β-thalassaemia | NG_000007.3 | 71037 |
| 1159 | CD 104 AGG>ACG | Hb Sherwood Forest | HBB:c.314G>C | β | Causative | β-chain variant | NG_000007.3 | 71038 |
| 1161 | CD 104 AGG>AAG | Hb Alzette | HBB:c.314G>A | β | Causative | β-chain variant | NG_000007.3 | 71038 |
| 2411 | CD 104 AGG>ATG [Arg>Met] | Hb Bad Salzuflen | HBB:c.314G>T | β | Causative | β-chain variant | NG_000007.3 | 71038 |
| 1162 | CD 104 AGG>AGC [Arg>Ser] | Hb Camperdown | HBB:c.315G>C | β | Causative | β-chain variant | NG_000007.3 | 71039 |
| 199 | IVS II-1 (-G) | N/A | HBB:c.315+1delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
| 200 | IVS II-1 G>A | N/A | HBB:c.315+1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
| 201 | IVS II-1 G>C | N/A | HBB:c.315+1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
| 202 | IVS II-1 G>T | N/A | HBB:c.315+1G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71040 |
| 203 | IVS II-2 T>C | N/A | HBB:c.315+2T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
| 204 | IVS II-2 (T>A) | N/A | HBB:c.315+2T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
| 205 | IVS II-2 (-T) | N/A | HBB:c.315+2del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
| 206 | IVS II-2/3 (-2 bp, +11 bp) (IVS II-2,3 (+11/-2)) | N/A | HBB:c.315+2_315+3delinsACGTTCTCTGA | β | Causative | β-thalassaemia | NG_000007.3 | 71041 |
| 2182 | IVS II-2 -TGAGTCTATGGG | N/A | HBB:c.315+2_315+13delTGAGTCTATGGG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
| 3226 | IVS II-2 T>G | N/A | HBB:c.315+2T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71041 |
| 207 | IVS II 4/5 -AG | N/A | NG_000007.3:g.71043_71044delAG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71043 |
| 208 | IVS II-5 (G>C) | N/A | HBB:c.315+5G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71044 |
| 3677 | IVS II-15 (C>T) | N/A | HBB:c.315+15C>T | β | Causative | β-thalassaemia | NG_000007.3 | 71054 |
| 3576 | rs10768683 (IVS II-16 G>C, HBB:c.315+16G>C) | N/A | NG_000007.3:g.71055G>C | β | Neutral | N/A | NG_000007.3 | 71055 |
| 2053 | IVS II-26 T>G | N/A | NG_000007.3:g.71065T>G | β | Neutral | N/A | NG_000007.3 | 71065 |
| 3775 | IVS II-26 (T>G) | N/A | HBB:c.315+26T>G | β | Neutral | N/A | NG_000007.3 | 71065 |
| 3678 | IVS II-45 (A>G) | N/A | HBB:c.315+45A>G | β | Causative | β-thalassaemia | NG_000007.3 | 71084 |
| 3681 | IVS II-63 (T>C) | N/A | HBB:c.315+63T>C | β | Causative | β-thalassaemia | NG_000007.3 | 71102 |
| 3680 | IVS II-70 (G>A) | N/A | HBB:c.315+70G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71109 |
| 3774 | IVS II-70 (G>C) | N/A | HBB:c.315+70G>C | β | Neutral | N/A | NG_000007.3 | 71109 |
| 2054 | IVS II-74 T>G | N/A | HBB:c.315+74T>G | β | Neutral | N/A | NG_000007.3 | 71113 |
| 3011 | IVS II-81 (C>T) | N/A | HBB:c.315+81C>T | β | Neutral | N/A | NG_000007.3 | 71120 |
| 3679 | IVS II-129 (G>A) | N/A | HBB:c.315+129G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71168 |
| 3977 | IVS II-132 G>C | N/A | HBB:c.315+132G>C | β | Causative | β-thalassaemia | NG_000007.3 | 71171 |
| 4040 | IVS II-143 G>A | N/A | HBB:c.315+143G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71182 |
| 3633 | IVS II-144 T>A | N/A | HBB:c.315+144T>A | β | Neutral | N/A | NG_000007.3 | 71183 |
| 3682 | IVS II-180 (T>C) | N/A | HBB:c.315+180T>C | β | Causative | β-thalassaemia | NG_000007.3 | 71219 |
| 3634 | IVS II-202 T>A | N/A | HBB:c.315+202T>A | β | Neutral | N/A | NG_000007.3 | 71241 |
| 3247 | IVS II-209 (-TTTT) | N/A | HBB:c.315+209_315+212delTTTT | β | Neutral | N/A | NG_000007.3 | 71248 |
| 3012 | IVS II-255 T>C | N/A | HBB:c.315+255T>C | β | Neutral | N/A | NG_000007.3 | 71294 |
| 2055 | IVS II-260 A>G | N/A | NG_000007.3:g.71299A>G | β | Neutral | N/A | NG_000007.3 | 71299 |
| 3683 | IVS II-308 (-A) | N/A | HBB:c.315+308delA | β | Causative | β-thalassaemia | NG_000007.3 | 71347 |
| 4046 | IVS II-337 A>G | N/A | HBB:c.315+337A>G | β | Causative | β-thalassaemia | NG_000007.3 | 71376 |
| 3996 | 4.9 Kb deletion (NG_000007.3:g.71429_76331del) | N/A | NC_000011.10:g.5226187_5231089del | β | Causative | β-thalassaemia, Ineffective erythropoiesis | NG_000007.3 | 71429 |
| 2495 | IVS II-478 C>A | N/A | HBB:c.316-373C>A | β | Neutral | N/A | NG_000007.3 | 71517 |
| 3797 | IVS II-509 (-A) | N/A | HBB:c.316-342delA | β | Causative | β-thalassaemia | NG_000007.3 | 71548 |
| 209 | IVS II-535 - CD 108 (+23, -310, +28) | Hb Jambol | HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71590 |
| 286 | 619 bp deletion (Asian Indian) | N/A | NG_000007.3:g.71609_72227del619 | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71609 |
| 3446 | IVS II-579 G>T | N/A | HBB:c.316-272G>T | β | Neutral | N/A | NG_000007.3 | 71618 |
| 3582 | IVS II-579 G>C | N/A | HBB:c.316-272G>C | β | Neutral | N/A | NG_000007.3 | 71618 |
| 210 | IVS II-613 (C>T) | N/A | HBB:c.316-238C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71652 |
| 3013 | IVS II-643 (C>G) | N/A | HBB:c.316-208C>G | β | Neutral | N/A | NG_000007.3 | 71682 |
| 3391 | IVS II-648/649 (-T) | N/A | HBB:c.316-202del | β | Causative | β-thalassaemia | NG_000007.3 | 71688 |
| 211 | IVS II-654 C>T | N/A | HBB:c.316-197C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71693 |
| 3866 | IVS II-659_664 (-GCAATA) | N/A | HBB:c.316-192_187del | β | Causative | β-thalassaemia | NG_000007.3 | 71698 |
| 2056 | IVS II-666 (C>T) | N/A | HBB:c.316-185C>T | β | Neutral | N/A | NG_000007.3 | 71705 |
| 3773 | IVS II-667 (T>C) | N/A | HBB:c.316-184T>C | β | Neutral | N/A | NG_000007.3 | 71706 |
| 3686 | IVS II-672 (A>C) | N/A | HBB:c.316-179A>C | β | Causative | β-thalassaemia | NG_000007.3 | 71711 |
| 212 | IVS II-705 (T>G) | N/A | HBB:c.316-146T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71744 |
| 3796 | IVS II-716 (+T) | N/A | HBB:c.316-135dupT | β | Causative | β-thalassaemia | NG_000007.3 | 71755 |
| 213 | IVS II-726 A>G | N/A | HBB:c.316-125A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71765 |
| 214 | IVS II-745 C>G | N/A | HBB:c.316-106C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71784 |
| 3928 | IVS II-752 T>G | N/A | HBB:c.316-99T>G | β | Causative | β-thalassaemia | NG_000007.3 | 71791 |
| 2200 | IVS II-765 L1 insertion (+CTGCTTTTATTTT) | N/A | HBB:c.316-98_316-86dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71792 |
| 215 | IVS II-761 A>G | N/A | HBB:c.316-90A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71800 |
| 2183 | IVS II-781 C>G | N/A | HBB:c.316-70C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71820 |
| 4088 | IVS II-786 T>A | N/A | HBB:c.316-65T>A | β | Causative | β-thalassaemia | NG_000007.3 | 71825 |
| 3687 | IVS II-806 (G>C) | N/A | HBB:c.316-45G>C | β | Causative | β-thalassaemia | NG_000007.3 | 71845 |
| 3616 | IVS II-809 (-G) | N/A | HBB:c.316-42delG | β | Causative | β-thalassaemia | NG_000007.3 | 71848 |
| 3772 | IVS II-814 (G>T) | N/A | HBB:c.316-37G>T | β | Neutral | N/A | NG_000007.3 | 71853 |
| 216 | IVS II-815 (C>T) | N/A | HBB:c.316-36C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71854 |
| 3558 | IVS II-821 (A>C) | N/A | HBB:c.316-30A>C | β | Causative | β-thalassaemia | NG_000007.3 | 71860 |
| 217 | IVS II-837 (T>G) | N/A | HBB:c.316-14T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71876 |
| 218 | IVS II-843 (T>G) | N/A | HBB:c.316-8T>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71882 |
| 219 | IVS II-844 (C>A) | N/A | HBB:c.316-7C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71883 |
| 220 | IVS II-844 (C>G) | N/A | HBB:c.316-7C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71883 |
| 221 | IVS II-848 (C>A) | N/A | HBB:c.316-3C>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71887 |
| 222 | IVS II-848 (C>G) | N/A | HBB:c.316-3C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71887 |
| 3045 | IVS II-848 C>T | N/A | HBB: c.316-3C>T | β | Causative | β-thalassaemia | NG_000007.3 | 71887 |
| 223 | IVS II-849 (A>G) | N/A | HBB:c.316-2A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71888 |
| 224 | IVS II-849 (A>C) | N/A | HBB:c.316-2A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71888 |
| 225 | IVS II-850 G>C | N/A | HBB:c.316-1G>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
| 226 | IVS II-850 (G>A) | N/A | HBB:c.316-1G>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
| 227 | IVS II-850 (G>T) | N/A | HBB:c.316-1G>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
| 228 | IVS II-850 (-G) | N/A | HBB:c.316-1delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71889 |
| 1163 | CD 105 CTC>TTC | Hb South Milwaukee | HBB:c.316C>T | β | Causative | β-chain variant | NG_000007.3 | 71890 |
| 4100 | CD 105 CTC>GTC [Leu>Val] | Hb Odder | HBB:c.316C>G | β | Causative | β-chain variant | NG_000007.3 | 71890 |
| 2379 | CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro] | Hb S-San Martin | HBB:c.[20A>T ;317T>C] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71891 |
| 2404 | CD 105 CTC>CCC [Leu>Pro] | Hb Bellevue IV | HBB:c.317T>C | β | Causative | β-chain variant | NG_000007.3 | 71891 |
| 229 | CD 106 (CTG >GTG) Leu to Val (Hb Federico II) | Hb L'Aquila | HBB:c.319C>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71893 |
| 230 | CD 106 CTG>CGG [Leu>Arg] | Hb Terre Haute | HBB:c.320T>G | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71894 |
| 1166 | CD 106 CTG>CCG [Leu>Pro] (Hb Casper) | Hb Southampton | HBB:c.320T>C | β | Causative | β-chain variant | NG_000007.3 | 71894 |
| 1167 | CD 106 CTG>CAG | Hb Tübingen | HBB:c.320T>A | β | Causative | β-chain variant | NG_000007.3 | 71894 |
| 1168 | CD 107 GGC>CGC | Hb Burke | HBB:c.322G>C | β | Causative | β-chain variant | NG_000007.3 | 71896 |
| 1169 | CD 107 GGC>GAC | Hb Lulu Island | HBB:c.323G>A | β | Causative | β-chain variant | NG_000007.3 | 71897 |
| 3309 | CD 107 GGC>GTC [Gly>Val] | Hb Nurnberg | HBB:c.323G>T | β | Causative | β-chain variant | NG_000007.3 | 71897 |
| 231 | CD 107 (+G) | N/A | HBB:c.323dupG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71897 |
| 2191 | CD 107-111 (-12 bp): (-GCAACGTGCTGG) | N/A | HBB:c.323_334del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71897 |
| 1170 | CD 108 AAC>GAC | Hb Yoshizuka | HBB:c.325A>G | β | Causative | β-chain variant | NG_000007.3 | 71899 |
| 1171 | CD 108 AAC>CAC [Asn>His] | Hb Shizuoka | HBB:c.325A>C | β | Causative | β-chain variant | NG_000007.3 | 71899 |
| 1172 | CD 108 AAC>ATC | Hb Schlierbach | HBB:c.326A>T | β | Causative | β-chain variant | NG_000007.3 | 71900 |
| 1173 | CD 108 AAC>AGC [Asn>Ser] (Hb Serres) | Hb Santa Juana | HBB:c.326A>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71900 |
| 232 | CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser | N/A | HBB:c.326_337delACGTGCTGGTCT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71900 |
| 1174 | CD 108 AAC>AAA or AAG | Hb Presbyterian | HBB:c.327C>A | HBB:c.327C>G | β | Causative | β-chain variant | NG_000007.3 | 71901 |
| 1176 | CD 109 GTG>CTG or TTG | Hb Johnstown | HBB:c.328G>C | HBB:c.328G>T | β | Causative | β-chain variant | NG_000007.3 | 71902 |
| 1177 | CD 109 GTG>ATG | Hb San Diego | HBB:c.328G>A | β | Causative | β-chain variant | NG_000007.3 | 71902 |
| 233 | CD 109 (-G) >156aa | Hb Manhattan | HBB:c.328delG | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71902 |
| 4064 | CD109/110 (-GCT +CAGCACGATG) | N/A | HBB:c.330_332delinsCAGCACGATG | β | Causative | β-thalassaemia | NG_000007.3 | 71904 |
| 234 | CD 110 CTG>CCG [Leu>Pro] | Hb Showa-Yakushiji | HBB:c.332T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71906 |
| 3384 | CD 110 CTG>CGG [Leu>Arg] | Hb London-Ontario | HBB:c.332T>G | β | Causative | β-chain variant | NG_000007.3 | 71906 |
| 1179 | CD 111 GTC>CTC, CD 119 GGC>GAC | Hb Fannin-Lubbock II | HBB:c.[334G>C;359G>A] | β | Causative | β-chain variant | NG_000007.3 | 71908 |
| 1180 | CD 111 GTC>TTC [Val>Phe] | Hb Peterborough | HBB:c.334G>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71908 |
| 1181 | CD 111 GTC>GCC [Val>Ala] | Hb Stanmore | HBB:c.335T>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71909 |
| 3001 | CD 111 GTC>GGC [Val>Gly] | Hb Belluno | HBB:c.335T>G | β | Causative | β-chain variant | NG_000007.3 | 71909 |
| 3024 | CD 111-115 (-12bp): (-TCTGTGTGCTGG) | N/A | HBB:c.335_346del | β | Causative | β-thalassaemia | NG_000007.3 | 71909 |
| 4075 | CD 111/112 (+C) | N/A | HBB:c.336dup | β | Causative | β-thalassaemia | NG_000007.3 | 71910 |
| 1182 | CD 112 TGT>CGT [Cys>Arg] | Hb Indianapolis | HBB:c.337T>C | β | Causative | β-chain variant | NG_000007.3 | 71911 |
| 2434 | CD 112 TGT>GGT [Cys>Gly] | Hb Saint-Marcellin | HBB:c.337T>G | β | Causative | β-chain variant | NG_000007.3 | 71911 |
| 1183 | CD 112 TGT>TTT | Hb Canterbury | HBB:c.338G>T | β | Causative | β-chain variant | NG_000007.3 | 71912 |
| 1184 | CD 112 TGT>TAT | Hb Yahata | HBB:c.338G>A | β | Causative | β-chain variant | NG_000007.3 | 71912 |
| 1195 | CD 112-116 (+GTGTGCTGGCCC) | Hb Antibes-Juan-Les-Pins | HBB:c.338_349dupGTGTGCTGGCCC | β | Causative | β-chain variant | NG_000007.3 | 71912 |
| 4105 | CD112 TGT>TCT [Cys>Ser] | Hb Jiangxi | HBB:c.338G>C | β | Causative | β-chain variant | NG_000007.3 | 71912 |
| 1185 | CD 112 TGT>TGG | Hb Toranomon | HBB:c.339T>G | β | Causative | β-chain variant | NG_000007.3 | 71913 |
| 235 | CD 112 (TGT>TGA) | N/A | HBB:c.339T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71913 |
| 2192 | CD 114/115 (+TGTGCTG) | N/A | HBB:c.339_345dupTGTGCTG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71913 |
| 236 | CD 113 (-G) >156aa | N/A | HBB:c.340delG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71914 |
| 1186 | CD 113 GTG>CTG or TTG [Val>Leu] | Hb Champagne | HBB:c.340G>C | HBB:c.340G>T | β | Causative | β-chain variant | NG_000007.3 | 71914 |
| 1187 | CD 113 GTG>GAG [Val>Glu] (Hb Kaohsiung) | Hb New York | HBB:c.341T>A | β | Causative | β-chain variant | NG_000007.3 | 71915 |
| 1188 | CD 114 CTG>ATG; CD 119 GGC>GAC | Hb Masuda | HBB:c.[343C>A;359G>A] | β | Causative | β-chain variant | NG_000007.3 | 71917 |
| 1190 | CD 114 CTG>ATG | Hb Zengcheng | HBB:c.343C>A | β | Causative | β-chain variant | NG_000007.3 | 71917 |
| 238 | CD 114 (-CT, +G) >156aa | Hb Geneva | HBB:c.343_344delinsG | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71917 |
| 237 | CD 114 CTG>CCG [Leu>Pro] (Hb Brescia) | Hb Durham-N.C. | HBB:c.344T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71918 |
| 3750 | CD 115 GCC>ACC [Ala>Thr] | N/A | HBB:c.346G>A | β | Causative | β-thalassaemia | NG_000007.3 | 71920 |
| 1192 | CD 115 GCC>CCC | Hb Madrid | HBB:c.346G>C | β | Causative | β-chain variant | NG_000007.3 | 71920 |
| 1193 | CD 115 GCC>GTC [Ala>Val] | Hb Roma | HBB:c.347C>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71921 |
| 239 | CD 115 (GCC>GAC) Ala to Asp | Hb Hradec Kralove (HK) | HBB:c.347C>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71921 |
| 3308 | CD 115-116 (-CC, +G) >156aa | Hb Grand Junction | HBB:c.348_349delinsG | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 71922 |
| 1196 | CD 116 CAT>TAT | Hb Rhode Island | HBB:c.349C>T | β | Causative | β-chain variant | NG_000007.3 | 71923 |
| 3228 | CD 116 CAT>-AT | N/A | HBB:c.349del | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71923 |
| 240 | CD 116 (+TGAT) | N/A | HBB:c.349_350insTGAT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71924 |
| 1197 | CD 116 CAT>CCT [His>Pro] | Hb Miami | HBB:c.350A>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71924 |
| 1198 | CD 116 CAT>CGT [His>Ala] | Hb Sfax | HBB:c.350A>G | β | Causative | β-chain variant | NG_000007.3 | 71924 |
| 1199 | CD 116 CAT>CTT | Hb Vexin | HBB:c.350A>T | β | Causative | β-chain variant | NG_000007.3 | 71924 |
| 1200 | CD 116 CAT>CAA or CAG | Hb Hafnia | HBB:c.351T>A | HBB:c.351T>G | β | Causative | β-chain variant | NG_000007.3 | 71925 |
| 1201 | CD 117 CAC>AAC | Hb Brent | HBB:c.352C>A | β | Causative | β-chain variant | NG_000007.3 | 71926 |
| 1202 | CD 117 CAC>TAC | Hb Tsukumi | HBB:c.352C>T | β | Causative | β-chain variant | NG_000007.3 | 71926 |
| 1203 | CD 117 CAC>GAC [His>Asp] | Hb North York | HBB:c.352C>G | β | Causative | β-chain variant | NG_000007.3 | 71926 |
| 1204 | CD 117 CAC>CGC | Hb P-Galveston | HBB:c.353A>G | β | Causative | β-chain variant | NG_000007.3 | 71927 |
| 1205 | CD 117 CAC>CCC | Hb Saitama | HBB:c.353A>C | β | Causative | β-chain variant | NG_000007.3 | 71927 |
| 2193 | CD 117 -C | N/A | HBB:c.354delC | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71928 |
| 3651 | CD 117 CAC>CAG [His>Gln] | Hb Murcia | HBB:c.354C>G | β | Causative | β-chain variant | NG_000007.3 | 71928 |
| 1207 | CD 118 TTT>GTT | Hb Sodertalje | HBB:c.355T>G | β | Causative | β-chain variant | NG_000007.3 | 71929 |
| 1208 | CD 118 TTT>TGT | Hb Harrow | HBB:c.356T>G | β | Causative | β-chain variant | NG_000007.3 | 71930 |
| 1209 | CD 118 TTT>TAT | Hb Minneapolis-Laos | HBB:c.356T>A | β | Causative | β-chain variant | NG_000007.3 | 71930 |
| 2334 | CD 118 TTT>TCT [Phe>Ser] | Hb Basingstoke | HBB:c.356T>C | β | Causative | β-chain variant | NG_000007.3 | 71930 |
| 3846 | CD 118 (-TT) | N/A | HBB:c.356_357delTT | β | Causative | β-thalassaemia | NG_000007.3 | 71930 |
| 241 | CD 118 (-T) > 156aa | Hb Sainte Seve | HBB:c.357delT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71931 |
| 4113 | CD 119-121 (+8 bp) | Hb Nanjing | HBB:c.358_365dup | β | Causative | β-thalassaemia | NG_000007.3 | 71932 |
| 2410 | CD 119 GGC>CGC [Gly>Arg] | Hb Angouleme | HBB:c.358G>C | β | Causative | β-chain variant | NG_000007.3 | 71932 |
| 2490 | CD 119 GGC>AGC [Gly>Ser] | Hb Madison-NC | HBB:c.358G>A | β | Causative | β-chain variant | NG_000007.3 | 71932 |
| 1210 | CD 119 GGC>GAC [Gly>Asp] | Hb Fannin-Lubbock I | HBB:c.359G>A | β | Causative | β-chain variant | NG_000007.3 | 71933 |
| 1211 | CD 119 GGC>GTC | Hb Bougardirey-Mali | HBB:c.359G>T | β | Causative | β-chain variant | NG_000007.3 | 71933 |
| 1212 | CD 119 GGC>GCC | Hb Iowa | HBB:c.359G>C | β | Causative | β-chain variant | NG_000007.3 | 71933 |
| 1213 | CD 120 AAA>GAA | Hb Hijiyama | HBB:c.361A>G | β | Causative | β-chain variant | NG_000007.3 | 71935 |
| 1214 | CD 120 AAA>CAA | Hb Takamatsu | HBB:c.361A>C | β | Causative | β-chain variant | NG_000007.3 | 71935 |
| 1215 | CD 120 AAA>ATA | Hb Jianghua | HBB:c.362A>T | β | Causative | β-chain variant | NG_000007.3 | 71936 |
| 1216 | CD 120 AAA>AAC | Hb Riyadh | HBB:c.363A>C | β | Causative | β-chain variant | NG_000007.3 | 71937 |
| 2973 | CD 120 AAA>AAT [Lys>Asn] | Hb Belsize Park | HBB:c.363A>T | β | Causative | β-chain variant | NG_000007.3 | 71937 |
| 242 | CD 120 -A [156 aa] (CD 120 AAA>AA-) | Hb Filottrano | HBB:c.363delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71937 |
| 243 | CD 120/121 (+A) | N/A | HBB:c.363dupA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71937 |
| 244 | CD 121 GAA>TAA (120aa) | N/A | HBB:c.364G>T | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71938 |
| 1217 | CD 121 GAA>CAA [Glu>Gln] (Hb D-Chicago, Hb D-North Carolina, Hb D-Portugal, Hb D-Los Angeles, Hb Oak Ridge) | Hb D-Punjab | HBB:c.364G>C | β | Causative | β-chain variant | NG_000007.3 | 71938 |
| 1218 | CD 121 GAA>AAA (Hb Egypt, Hb O-Thrace) | Hb O-Arab | HBB:c.364G>A | β | Causative | β-chain variant | NG_000007.3 | 71938 |
| 1219 | CD 121 GAA>GCA | Hb D-Neath | HBB:c.365A>C | β | Causative | β-chain variant | NG_000007.3 | 71939 |
| 1220 | CD 121 GAA>GGA | Hb St. Francis | HBB:c.365A>G | β | Causative | β-chain variant | NG_000007.3 | 71939 |
| 1221 | CD 121 GAA>GTA | Hb Beograd | HBB:c.365A>T | β | Causative | β-chain variant | NG_000007.3 | 71939 |
| 3934 | CD 121 GAA>GAC [Glu>Asp] | Hb Westport | HBB:c.366A>C | β | Causative | β-chain variant | NG_000007.3 | 71940 |
| 1222 | CD 122 TTC>CTC or TTG or TTA | Hb Bushey | HBB:c.367T>C | HBB:c.369C>A | HBB:c.369C>G | β | Causative | β-chain variant | NG_000007.3 | 71941 |
| 1015 | CD 65 AAG>ATG; CD 122 TTC>CTC or TTG or TTA | Hb Casablanca | HBB:c.[367T>C ; 197A>T] | HBB:c.[369C>A ; 197A>T] | HBB:c.[369C>G; 197A>T] | β | Causative | β-chain variant | NG_000007.3 | 71941 |
| 1223 | CD 122 TTC>TCC [Phe>Ser] | Hb Caruaru | HBB:c.368T>C | β | Causative | β-chain variant | NG_000007.3 | 71942 |
| 4022 | CD 122 TTC>TGC [Phe>Cys] | Hb Tanah Merah | HBB:c.368T>G | β | Causative | β-chain variant | NG_000007.3 | 71942 |
| 2058 | CD 122 TTT>TTC [Phe>Phe] | N/A | NG_000007.3:g.71943C>T | β | Neutral | N/A | NG_000007.3 | 71943 |
| 245 | CD 123 (-A) >156aa | Hb Makabe | HBB:c.370delA | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71944 |
| 246 | CD 123-125 (-ACCCCACC) >135aa | Hb Khon Kaen | HBB:c.370_378delACCCCACCA | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71944 |
| 1225 | CD 123 ACC>AAC | Hb Ernz | HBB:c.371C>A | β | Causative | β-chain variant | NG_000007.3 | 71945 |
| 1226 | CD 123 ACC>ATC | Hb Villejuif | HBB:c.371C>T | β | Causative | β-chain variant | NG_000007.3 | 71945 |
| 1227 | CD 124 CCA>TCA | Hb Tunis | HBB:c.373C>T | β | Causative | β-chain variant | NG_000007.3 | 71947 |
| 3556 | CD 124 CCA>ACA [Pro>Thr] (Hb Yuxi) | Hb Gibbon | HBB:c.373C>A | β | Causative | β-chain variant | NG_000007.3 | 71947 |
| 1228 | CD 124 CCA>CAA | Hb Ty Gard | HBB:c.374C>A | β | Causative | β-chain variant | NG_000007.3 | 71948 |
| 1229 | CD 124 CCA>CTA | Hb Tende | HBB:c.374C>T | β | Causative | β-chain variant | NG_000007.3 | 71948 |
| 1230 | CD 124 CCA>CGA [Pro>Arg] | Hb Khartoum | HBB:c.374C>G | β | Causative | β-chain variant | NG_000007.3 | 71948 |
| 4065 | CD 124 (-C) | N/A | HBB:c.374delC | β | Causative | α-thalassaemia | NG_000007.3 | 71948 |
| 3555 | CD 124 (+C) | N/A | HBB:c.374dup | β | Causative | β-thalassaemia, Haemolytic anaemia | NG_000007.3 | 71948 |
| 247 | CD 124 (-A) >156aa | N/A | HBB:c.375delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71949 |
| 2194 | CD 124/125 (+A) | N/A | HBB:c.375dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71949 |
| 248 | CD 125 (+CCA) | N/A | HBB:c.376_378dupCCA | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71950 |
| 3227 | CD 125-126 (+CCAGT) | N/A | HBB:c.376_380dupCCAGT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71950 |
| 3313 | CD 125 CCA>ACA [Pro>Thr] | Hb Novara | HBB:c.376C>A | β | Causative | β-chain variant | NG_000007.3 | 71950 |
| 2195 | CD 125-127 (-CAGTGC) | N/A | HBB:c.377_382delCAGTGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71951 |
| 249 | CD 125 (-A) >156aa | N/A | HBB:c.378delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71952 |
| 3563 | CD 126 GTG>-TG | N/A | HBB:c.379delG | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71953 |
| 1231 | CD 126 GTG>CTG | Hb Molfetta | HBB:c.379G>C | β | Causative | β-chain variant | NG_000007.3 | 71953 |
| 1233 | CD 126 GTG>GCG | Hb Beirut | HBB:c.380T>C | β | Causative | β-chain variant | NG_000007.3 | 71954 |
| 1234 | CD 126 GTG>GAG | Hb Hofu | HBB:c.380T>A | β | Causative | β-chain variant | NG_000007.3 | 71954 |
| 1235 | CD 126 GTG>GGG [Val>Gly] (Hb Neapolis) | Hb Dhonburi | HBB:c.380T>G | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71954 |
| 250 | CD 126 (-T) >156aa | Hb Vercelli | HBB:c.380delT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71954 |
| 252 | CD 126-131 (-17 bp) | Hb Westdale | HBB:c.380_396delTGCAGGCTGCCTATCAG | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 71954 |
| 255 | CD 127 CAG>TAG [Gln>STOP] | N/A | HBB:c.382C>T | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71956 |
| 4087 | CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG) | N/A | HBB:c.382_402del | β | Causative | β-thalassaemia | NG_000007.3 | 71956 |
| 1236 | CD 127 CAG>AAG | Hb Brest | HBB:c.382C>A | β | Causative | β-chain variant | NG_000007.3 | 71956 |
| 1237 | CD 127 CAG>GAG | Hb Complutense | HBB:c.382C>G | β | Causative | β-chain variant | NG_000007.3 | 71956 |
| 253 | CD 127 (CAG>CCG) Gln to Pro | Hb Houston | HBB:c.383A>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
| 254 | CD 127 CAG>CGG [Gln>Arg] | Hb Dieppe | HBB:c.383A>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
| 256 | CD 127/128 -AGG [Glu-Ala>Pro] | Hb Gunma | HBB:c.383_385delAGG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
| 257 | CD 128/129 (-4, +5, -11 bp) >153aa | N/A | HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC] | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71959 |
| 1241 | CD 128 GCT>CCT | Hb Mont Saint Aignan | HBB:c.385G>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71959 |
| 3927 | CD 128 GCT>-CT | N/A | HBB:c.385delG | β | Causative | β-thalassaemia | NG_000007.3 | 71959 |
| 1242 | CD 128 GCT>GTT | Hb Sitia | HBB:c.386C>T | β | Causative | β-chain variant | NG_000007.3 | 71960 |
| 1243 | CD 128 GCT>GAT [Ala>Asp] | Hb J-Guantanamo | HBB:c.386C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71960 |
| 1244 | CD 129 GCC>CCC | Hb Crete | HBB:c.388G>C | β | Causative | β-chain variant | NG_000007.3 | 71962 |
| 1245 | CD 129 GCC>GTC [Ala>Val] | Hb La Desirade | HBB:c.389C>T | β | Causative | β-chain variant | NG_000007.3 | 71963 |
| 1246 | CD 129 GCC>GAC [Ala>Asp] (Hb K-Cameroon) | Hb J-Taichung | HBB:c.389C>A | β | Causative | β-chain variant | NG_000007.3 | 71963 |
| 3951 | CD 129-133 (-CCTATCAGAAAGT) | Hb Phoenix | HBB:c.389_401del | β | Causative | β-chain variant | NG_000007.3 | 71963 |
| 1248 | CD 130 TAT>GAT | Hb Wien | HBB:c.391T>G | β | Causative | β-chain variant | NG_000007.3 | 71965 |
| 1249 | CD 130 TAT>TGT [Tyr>Cys] | Hb Montfermeil | HBB:c.392A>G | β | Causative | β-chain variant | NG_000007.3 | 71966 |
| 1250 | CD 130 TAT>TCT | Hb Nevers | HBB:c.392A>C | β | Causative | β-chain variant | NG_000007.3 | 71966 |
| 2196 | CD 130 TAT>TAA [Tyr>STOP] | N/A | HBB:c.393T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71967 |
| 3860 | CD 130 TAT>TAG [Tyr>STOP] | N/A | HBB:c.393T>G | β | Causative | β-thalassaemia | NG_000007.3 | 71967 |
| 258 | CD 131 (CAG>TAG) | N/A | HBB:c.394C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71968 |
| 1251 | CD 131 CAG>GAG | Hb Camden | HBB:c.394C>G | β | Causative | β-chain variant | NG_000007.3 | 71968 |
| 1252 | CD 131 CAG>AAG | Hb Shelby | HBB:c.394C>A | β | Causative | β-chain variant | NG_000007.3 | 71968 |
| 1253 | CD 131 CAG>CGG | Hb Sarrebourg | HBB:c.395A>G | β | Causative | β-chain variant | NG_000007.3 | 71969 |
| 1254 | CD 131 CAG>CCG | Hb Shanghai | HBB:c.395A>C | β | Causative | β-chain variant | NG_000007.3 | 71969 |
| 2197 | CD 131 (+A) | N/A | HBB:c.395dupA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71969 |
| 259 | CD 131/132 (+GCCT) | N/A | HBB:c.396_397insGCCT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71970 |
| 260 | CD 131-132 (-GA) >138aa | N/A | HBB:c.396_397delGA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71970 |
| 261 | CD 131-134 (-11bp) >134aa | N/A | HBB:c.396_406del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71970 |
| 1255 | CD 131 CAG>CAC | Hb Silver Springs | HBB:c.396G>C | β | Causative | β-chain variant | NG_000007.3 | 71970 |
| 1256 | CD 132 AAA>GAA [Lys>Glu] | Hb Takasago | HBB:c.397A>G | β | Causative | β-chain variant | NG_000007.3 | 71971 |
| 1257 | CD 132 AAA>CAA [Lys>Gln] | Hb K Woolwich | HBB:c.397A>C | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71971 |
| 262 | CD 132 (AAA>TAA) | N/A | HBB:c.397A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71971 |
| 1258 | CD 132 AAA>ACA | Hb Cook | HBB:c.398A>C | β | Causative | β-chain variant | NG_000007.3 | 71972 |
| 1259 | CD 132 AAA>AAC, also AAA>AAT | Hb Yamagata | HBB:c.399A>C | HBB:c.399A>T | β | Causative | β-chain variant | NG_000007.3 | 71973 |
| 3896 | CD 132 (AAA>AA-) | N/A | HBB:c.399del | β | Causative | β-thalassaemia | NG_000007.3 | 71973 |
| 1260 | CD 133 GTG>CTG | Hb Extremadura | HBB:c.400G>C | β | Causative | β-chain variant | NG_000007.3 | 71974 |
| 1261 | CD 133 GTG>ATG [Val>Met] | Hb La Pommeraie | HBB:c.400G>A | β | Causative | β-chain variant | NG_000007.3 | 71974 |
| 3375 | CD 133 GTG>TTG [Val>Leu] | Hb Miringa | HBB:c.400G>T | β | Causative | β-chain variant | NG_000007.3 | 71974 |
| 1262 | CD 133 GTG>GCG | Hb Renert | HBB:c.401T>C | β | Causative | β-chain variant | NG_000007.3 | 71975 |
| 3784 | CD 133 GTG>GTC [Val>Val] | N/A | HBB:c.402G>C | β | Neutral | N/A | NG_000007.3 | 71976 |
| 1263 | CD 134 GTG>GCG | Hb Yaounde | HBB:c.404T>C | β | Causative | β-chain variant | NG_000007.3 | 71978 |
| 1264 | CD 134 GTG>GAG | Hb North Shore | HBB:c.404T>A | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71978 |
| 2389 | CD 134 GTG>GGG [Val>Gly] | Hb Olupona | HBB:c.404T>G | β | Causative | β-chain variant | NG_000007.3 | 71978 |
| 263 | CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg | N/A | HBB:c.404_413delinsGCAG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71978 |
| 1265 | CD 135 GCT>CCT [Ala>Pro] | Hb Altdorf | HBB:c.406G>C | β | Causative | β-chain variant | NG_000007.3 | 71980 |
| 2537 | CD 135 GCT>ACT [Ala>Thr] | Hb Calvino | HBB:c.406G>A | β | Causative | β-chain variant | NG_000007.3 | 71980 |
| 1266 | CD 135 GCT>GAT [Ala>Asp] | Hb Beckman | HBB:c.407C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71981 |
| 1267 | CD 135 GCT>GTT [Ala>Val] | Hb Alperton | HBB:c.407C>T | β | Causative | β-chain variant | NG_000007.3 | 71981 |
| 3249 | CD 135 GCT>GC- | Hb Urumqi | HBB:c.408delT | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71982 |
| 1268 | CD 136 GGT>TGT [Gly>Cys] | Hb Visayan | HBB:c.409G>T | β | Causative | β-chain variant | NG_000007.3 | 71983 |
| 1269 | CD 136 GGT>AGT [Gly>Ser] | Hb Perpignan | HBB:c.409G>A | β | Causative | β-chain variant | NG_000007.3 | 71983 |
| 1270 | CD 136 GGT>CGT | Hb 'tlangeland | HBB:c.409G>C | β | Causative | β-chain variant | NG_000007.3 | 71983 |
| 1271 | CD 136 GGT>GCT [Gly>Ala] | Hb Petit Bourg | HBB:c.410G>C | β | Causative | β-chain variant | NG_000007.3 | 71984 |
| 1272 | CD 136 GGT>GAT | Hb Hope | HBB:c.410G>A | β | Causative | β-chain variant | NG_000007.3 | 71984 |
| 3847 | CD 136 GGT>GTT [Gly>Val] | Hb Bourg-en-Bresse | HBB:c.410G>T | β | Causative | β-chain variant | NG_000007.3 | 71984 |
| 3034 | CD 137 GTG>TGG [Val>Trp] | Hb Allentown | HBB:c.412_413delinsTG | β | Causative | β-chain variant | NG_000007.3 | 71986 |
| 264 | CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp | Hb Stara Zagora | HBB:c.413_418delTGGCTA | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71987 |
| 1274 | CD 138 GCT>CCT [Ala>Pro] | Hb Brockton | HBB:c.415G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71989 |
| 1275 | CD 138 GCT>ACT | Hb Buzen | HBB:c.415G>A | β | Causative | β-chain variant | NG_000007.3 | 71989 |
| 1276 | CD 138 GCT>GTT [Ala>Val] | Hb Cutlerville | HBB:c.416C>T | β | Causative | β-chain variant | NG_000007.3 | 71990 |
| 3361 | CD 138/139 (+T) | N/A | HBB:c.417dupT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71991 |
| 1277 | CD 139 AAT>TAT | Hb Aurora | HBB:c.418A>T | β | Causative | β-chain variant | NG_000007.3 | 71992 |
| 1278 | CD 139 AAT>GAT | Hb Geelong | HBB:c.418A>G | β | Causative | β-chain variant | NG_000007.3 | 71992 |
| 1279 | CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] (Hb Nykerk) | Hb Nijkerk | HBB:c.[418A>T;415_417delGCT] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71992 |
| 2994 | CD 139 AAT>CAT [Asn>His] | Hb Bermondsey | HBB:c.418A>C | β | Causative | β-chain variant | NG_000007.3 | 71992 |
| 3370 | CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT) | Hb Templeuve | HBB:c.[421G>A;418_420delAAT] | β | Causative | β-chain variant | NG_000007.3 | 71992, 71995 |
| 1280 | CD 139 AAT>ACT | Hb Sagami | HBB:c.419A>C | β | Causative | β-chain variant | NG_000007.3 | 71993 |
| 3388 | CD 139 AAT>AGT [Asn>Ser] | Hb Emilia | HBB:c.419A>G | β | Causative | β-chain variant | NG_000007.3 | 71993 |
| 1281 | CD 139 AAT>AAR [Asn>Lys] | Hb Hinsdale | HBB:c.420T>R | β | Causative | β-chain variant | NG_000007.3 | 71994 |
| 2282 | CD 139/140 +T [163 aa] | Hb Boston-Kuwait | HBB:c.420dupT | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71994 |
| 2059 | CD 139 AAT>AAC [Asn>Asn] | N/A | NG_000007.3:g.71994T>C | β | Neutral | N/A | NG_000007.3 | 71994 |
| 1282 | CD 140 GCC>ACC | Hb Saint-Jacques | HBB:c.421G>A | β | Causative | β-chain variant | NG_000007.3 | 71995 |
| 1283 | CD 140 GCC>GAC [Ala>Asp] | Hb Himeji | HBB:c.422C>A | β | Causative | β-chain variant | NG_000007.3 | 71996 |
| 1284 | CD 140 GCC>GTC | Hb Puttelange | HBB:c.422C>T | β | Causative | β-chain variant | NG_000007.3 | 71996 |
| 1285 | CD 141 CTG>GTG; CD 144 AAG>TAG | Hb Kochi | HBB:c.[424C>G;433A>T] | β | Causative | β-chain variant | NG_000007.3 | 71998 |
| 1287 | CD 141 (-CTG) | Hb Coventry | HBB:c.424_426delCTG | β | Causative | β-chain variant | NG_000007.3 | 71998 |
| 2284 | CD 141 CTG>GGG | Hb Aurillac | HBB:c.424C>G | β | Causative | β-chain variant | NG_000007.3 | 71998 |
| 265 | CD 141 (-C) >156aa | Hb Florida | HBB:c.424delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71998 |
| 1288 | CD 141-144 (-TGGCCCACA) | Hb Birmingham | HBB:c.425_433delTGGCCCACA | β | Causative | β-chain variant | NG_000007.3 | 71999 |
| 1289 | CD 141 CTG>CGG | Hb Olmsted | HBB:c.425T>G | β | Causative | β-chain variant | NG_000007.3 | 71999 |
| 3980 | CD 141 CTG>CCG [Leu>Pro] | Hb Yoshkar-Ola | HBB:c.425T>C | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia | NG_000007.3 | 71999 |
| 1291 | CD 142 GCC>ACC | Hb Inglewood | HBB:c.427G>A | β | Causative | β-chain variant | NG_000007.3 | 72001 |
| 1292 | CD 142 GCC>CCC | Hb Toyoake | HBB:c.427G>C | β | Causative | β-chain variant | NG_000007.3 | 72001 |
| 1293 | CD 142 GCC>GAC | Hb Ohio | HBB:c.428C>A | β | Causative | β-chain variant | NG_000007.3 | 72002 |
| 2297 | CD 142 GCC>GTC (Ala>Val) | Hb Waterland | HBB:c.428C>T | β | Causative | β-chain variant | NG_000007.3 | 72002 |
| 1290 | CD 142 (-CC) | Hb Uzes | HBB:c.429_430delCC | β | Causative | β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72003 |
| 2024 | CD 143 (-C) | Hb Montreal II | HBB:c.430delC | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72004 |
| 1295 | CD 143 CAC>GAC | Hb Rancho Mirage | HBB:c.430C>G | β | Causative | β-chain variant | NG_000007.3 | 72004 |
| 1296 | CD 143 CAC>AAC [His>Asn] | Hb Sapporo | HBB:c.430C>A | β | Causative | β-chain variant | NG_000007.3 | 72004 |
| 1297 | CD 143 CAC>TAC | Hb Old Dominion/Burton-upon-Trent (OD/BuT) | HBB:c.430C>T | β | Causative | β-chain variant | NG_000007.3 | 72004 |
| 1294 | CD 143 (-A) | Hb Saverne | HBB:c.431delA | β | Causative | β-chain variant | NG_000007.3 | 72005 |
| 1298 | CD 143 CAC>CTC [His>Leu] | Hb Vancleave | HBB:c.431A>T | β | Causative | β-chain variant | NG_000007.3 | 72005 |
| 1299 | CD 143 CAC>CGC | Hb Abruzzo | HBB:c.431A>G | β | Causative | β-chain variant | NG_000007.3 | 72005 |
| 1300 | CD 143 CAC>CCC | Hb Syracuse | HBB:c.431A>C | β | Causative | β-chain variant | NG_000007.3 | 72005 |
| 1301 | CD 143 CAC>CAA or CAG [His>Gln] | Hb Little Rock | HBB:c.432C>A | HBB:c.432C>G | β | Causative | β-chain variant | NG_000007.3 | 72006 |
| 3771 | CD 143 CAC>CAT [His>His] | N/A | HBB:c.432C>T | β | Neutral | N/A | NG_000007.3 | 72006 |
| 1303 | CD 144 AAG>GAG | Hb Mito | HBB:c.433A>G | β | Causative | β-chain variant | NG_000007.3 | 72007 |
| 2364 | CD 144 AAG>TAG | Hb Cambridge-MA | HBB:c.433A>T | β | Causative | β-chain variant | NG_000007.3 | 72007 |
| 1302 | CD 144 (-A) | Hb Trento | HBB:c.434delA | β | Causative | β-chain variant | NG_000007.3 | 72008 |
| 1304 | CD 144 AAG>ATG | Hb Barbizon | HBB:c.434A>T | β | Causative | β-chain variant | NG_000007.3 | 72008 |
| 2961 | CD 144 AAG>ACG [Lys>Thr] | Hb San Cataldo | HBB:c.434A>C | β | Causative | β-chain variant | NG_000007.3 | 72008 |
| 3325 | CD 144 AAG>AGG [Lys>Arg] | Hb Heze | HBB:c.434A>G | β | Causative | β-chain variant | NG_000007.3 | 72008 |
| 1305 | CD 144 AAG>AAT or AAC | Hb Andrew-Minneapolis | HBB:c.435G>C | HBB:c.435G>T | β | Causative | β-chain variant | NG_000007.3 | 72009 |
| 1306 | CD 145 (+CT) | Hb Cranston | HBB:c.436_437insCT | β | Causative | β-chain variant | NG_000007.3 | 72010 |
| 1307 | CD 145 TAT>AAT | Hb Osler | HBB:c.436T>A | β | Causative | β-chain variant | NG_000007.3 | 72010 |
| 1308 | CD 145 TAT>CAT | Hb Bethesda | HBB:c.436T>C | β | Causative | β-chain variant | NG_000007.3 | 72010 |
| 1309 | CD 145 TAT>GAT | Hb Nancy | HBB:c.436T>G | β | Causative | β-chain variant | NG_000007.3 | 72010 |
| 1310 | CD 145 TAT>TGT | Hb Rainier | HBB:c.437A>G | β | Causative | β-chain variant | NG_000007.3 | 72011 |
| 1311 | CD 145 TAT>TAA | Hb McKees Rocks | HBB:c.438T>A | β | Causative | β-chain variant | NG_000007.3 | 72012 |
| 1312 | CD 146 CAC>GAC | Hb Hiroshima | HBB:c.439C>G | β | Causative | β-chain variant | NG_000007.3 | 72013 |
| 1313 | CD 146 CAC>TAC | Hb Bologna-St.Orsola | HBB:c.439C>T | β | Causative | β-chain variant | NG_000007.3 | 72013 |
| 3398 | CD 146 CAC>AAC [His>Asn] | Hb Pusan | HBB:c.439C>A | β | Causative | β-chain variant | NG_000007.3 | 72013 |
| 1314 | CD 146 CAC>CCC | Hb York | HBB:c.440A>C | β | Causative | β-chain variant | NG_000007.3 | 72014 |
| 1315 | CD 146 CAC>CTC | Hb Cowtown | HBB:c.440A>T | β | Causative | β-chain variant | NG_000007.3 | 72014 |
| 1316 | CD 146 CAC>CGC | Hb Cochin-Port Royal | HBB:c.440A>G | β | Causative | β-chain variant | NG_000007.3 | 72014 |
| 1319 | CD 146/147 (+AC) | Hb Tak | HBB:c.440_441dupAC | β | Causative | β-chain variant | NG_000007.3 | 72014 |
| 1317 | CD 146 CAC>CAG | Hb Kodaira II | HBB:c.441C>G | β | Causative | β-chain variant | NG_000007.3 | 72015 |
| 1318 | CD 146 CAC>CAA | Hb Kodaira | HBB:c.441C>A | β | Causative | β-chain variant | NG_000007.3 | 72015 |
| 1320 | CD 147 (+TA) | Hb Monplaisir | HBB:c.442_443dupTA | β | Causative | β-chain variant | NG_000007.3 | 72016 |
| 3400 | CD 147 TAA>CAA [Stop>Gln] | Hb Zunyi | HBB:c.442T>C | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 72016 |
| 3697 | CD 147 TAA>ΑAA [Stop>Lys] | Hb Mokum | HBB:c.442T>A | β | Causative | β-chain variant, β-thalassaemia | NG_000007.3 | 72016 |
| 3444 | CD 147 TAA>TCA [Stop>Ser] | Hb Kanagawa | HBB:c.443A>C | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 72017 |
| 4104 | CD 147 TAA>ΑAC [Stop>Tyr] | N/A | HBB:c.444A>C | β | Causative | β-thalassaemia | NG_000007.3 | 72018 |
| 3863 | 3'UTR +1 G>A | N/A | HBB:c.*1G>A | β | Causative | β-thalassaemia | NG_000007.3 | 72019 |
| 2060 | 3'UTR +4 C>T (HBB:c.*4C>T, +1478 C>T) | N/A | NG_000007.3:g.72022C>T | β | Neutral | N/A | NG_000007.3 | 72022 |
| 267 | 3'UTR +6 C>G (Terminal CD +6 C>G, CAP +1480, β nt 1480 C>G) | N/A | HBB:c.*6C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72024 |
| 3688 | 3'UTR +21 A>G | N/A | HBB:c.*21A>G | β | Causative | β-thalassaemia | NG_000007.3 | 72039 |
| 2177 | 3'UTR +32 A>C (3'UTR +1506 (A>C), Terminal CD +32 A>C) | N/A | HBB:c.*32A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72050 |
| 268 | 3'UTR +47 C>G (Terminal CD +47 C>G) | N/A | HBB:c.*47C>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72065 |
| 3180 | 3'UTR +62 A>G | N/A | HBB:c.*62A>G | β | Causative | β-thalassaemia | NG_000007.3 | 72080 |
| 2061 | 3'UTR +67 G>T (HBB:c.*67G>T, +1541 G>T) | N/A | NG_000007.3:g.72085C>T | β | Neutral | N/A | NG_000007.3 | 72085 |
| 269 | 3'UTR -13 bp [CAP +1567 to +1579] | N/A | HBB:c.*93_*105delATCTGGATTCTGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72111 |
| 3048 | 3'UTR, +C, -TGGATTCT | N/A | HBB:c.*96_*103delTGGATTCTinsC | β | Causative | β-thalassaemia | NG_000007.3 | 72113 |
| 3443 | Cap +1570 (T>C) | N/A | HBB:c.*96T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72114 |
| 4076 | Cap +1570 (T>G) | N/A | HBB:c.*96T>G | β | Causative | β-thalassaemia | NG_000007.3 | 72114 |
| 2063 | 3'UTR +104 G>A (+1578 G>A) | N/A | HBB:c.*104G>A | β | Neutral | N/A | NG_000007.3 | 72122 |
| 270 | Poly A (A>C) AATAAA>CATAAA | N/A | HBB:c.*108A>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72126 |
| 271 | Poly A (A>G) AATAAA>GATAAA | N/A | HBB:c.*108A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72126 |
| 272 | Poly A (T>C) AATAAA>AACAAA | N/A | HBB:c.*110T>C | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
| 273 | Poly A (T>A) AATAAA>AAAAAA | N/A | HBB:c.*110T>A | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
| 277 | Poly A (-TA); (AATAAA>AAAA) | N/A | HBB:c.*110_*111delTA | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
| 278 | Poly A (-AATAA) (polyA (-TAAAA)) | N/A | HBB:c.*110_*114del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
| 4025 | Poly A (-T) AATAAA>AA-AAA | N/A | HBB:c.*110del | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72128 |
| 274 | Poly A (A>G) AATAAA>AATGAA | N/A | HBB:c.*111A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72129 |
| 275 | Poly A (A>G) AATAAA>AATAGA | N/A | HBB:c.*112A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72130 |
| 2198 | Poly A (A>T) AATAAA>AATATA | N/A | HBB:c.*112A>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72130 |
| 276 | Poly A (A>G) AATAAA>AATAAG | N/A | HBB:c.*113A>G | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72131 |
| 3046 | 3'UTR +115-+116 (-AA) (Poly A (-AA)) | N/A | HBB:c.*115_*116del | β | Causative | β-thalassaemia | NG_000007.3 | 72133 |
| 3933 | 3'UTR +116 (+A) (β nt + 1590 (+A)) | N/A | HBB:c.*116dup | β | Causative | β-thalassaemia | NG_000007.3 | 72134 |
| 2564 | 3'UTR +118 (A>G) (3'UTR +1592 (A>G)) | N/A | HBB:c.*118A>G | β | Causative | β-thalassaemia | NG_000007.3 | 72136 |
| 3786 | 3'UTR +129 T>A | N/A | HBB:c.*129T>A | β | Causative | β-thalassaemia | NG_000007.3 | 72147 |
| 3605 | 3'UTR +132 C>T | N/A | HBB:c.*132C>T | β | Causative | β-thalassaemia | NG_000007.3 | 72150 |
| 4018 | 3'UTR +132 C>G | N/A | HBB:c.*132C>G | β | Causative | β-thalassaemia | NG_000007.3 | 72150 |
| 2064 | TTS +1 T>A (+1609 T>A, HBB:c.*135T>A) | N/A | NG_000007.3:g.72153T>A | β | Neutral | N/A | NG_000007.3 | 72153 |
| 3932 | TTS +8 T>C (β nt +1616 T>C) | N/A | HBB:c.*142T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72160 |
| 3931 | TTS +22 G>C (β nt +1630 G>C) | N/A | HBB:c.*156G>C | β | Causative | β-thalassaemia | NG_000007.3 | 72174 |
| 3930 | TTS +43 (+A) (β nt +1651 (+A)) | N/A | HBB:c.*177dup | β | Causative | β-thalassaemia | NG_000007.3 | 72195 |
| 2496 | TTS +48 G>A (CAP +1656 G>A) | N/A | HBB:c.*182G>A | β | Causative | β-thalassaemia | NG_000007.3 | 72200 |
| 2463 | TTS +99 C>C | N/A | HBB:c.*233G>C | β | Causative | β-thalassaemia | NG_000007.3 | 72251 |
| 3929 | TTS +113 T>C (β nt + 1721 T>C) | N/A | HBB:c.*247T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72265 |
| 3689 | TTS +127 T>C | N/A | HBB:c.*261T>C | β | Causative | β-thalassaemia | NG_000007.3 | 72279 |
| 2816 | rs10837631 | N/A | NG_000007.3:g.72490A>T | β | Modifier | Hb F levels | NG_000007.3 | 72490 |
| 3872 | rs886037864 | N/A | NC_000002.12:g.60546217T>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 12282 |
| 3873 | rs886037865 | N/A | NC_000002.12:g.60546213C>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 12286 |
| 3874 | rs886037866 | N/A | NC_000002.12:g.60546158G>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 12341 |
| 3418 | rs189984760 | N/A | NG_011968.1:g.47126T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 47126 |
| 3163 | rs117674195 | N/A | NG_011968.1:g.55290C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 55290 |
| 2073 | rs10184550 | N/A | NG_011968.1:g.56340C>T | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 56340 |
| 2823 | rs6709302 | N/A | NG_011968.1:g.58005C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 58005 |
| 2074 | rs7606173 | N/A | NG_011968.1:g.60183C>G | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 60183 |
| 3218 | rs1896296 | N/A | NG_011968.1:g.61547C>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 61547 |
| 2817 | rs1896295 | N/A | NG_011968.1:g.61548A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 61548 |
| 3102 | rs6729815 | N/A | NG_011968.1:g.61962A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 61962 |
| 2819 | rs45606437 | N/A | NG_011968.1:g.62525delG | BCL11A | Modifier | Hb F levels | NG_011968.1 | 62525 |
| 2818 | rs6738440 | N/A | NG_011968.1:g.63393T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 63393 |
| 2075 | rs6706648 | N/A | NG_011968.1:g.63594G>A | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 63594 |
| 2067 | rs7557939 | N/A | NG_011968.1:g.64287C>T | BCL11A | Modifier | Hb F levels, Pain, Anaemia | NG_011968.1 | 64287 |
| 2820 | rs7584113 | N/A | NG_011968.1:g.64323T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 64323 |
| 2066 | rs4671393 | N/A | NG_011968.1:g.64683T>C | BCL11A | Modifier | Hb F levels, Acute chest syndrome, F-cell numbers | NG_011968.1 | 64683 |
| 2793 | rs10172646 | N/A | NG_011968.1:g.64877C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 64877 |
| 2821 | rs10195871 | N/A | NG_011968.1:g.65045T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 65045 |
| 2065 | rs11886868 | N/A | NG_011968.1:g.65388G>A | BCL11A | Modifier | Hb F levels, Pain, Anaemia | NG_011968.1 | 65388 |
| 2072 | rs766432 | N/A | NG_011968.1:g.65664G>T | BCL11A | Modifier | Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Response to hydroxyurea | NG_011968.1 | 65664 |
| 3412 | rs766431 | N/A | NG_011968.1:g.65716T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 65716 |
| 2822 | rs1896294 | N/A | NG_011968.1:g.66560G>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 66560 |
| 2070 | rs7599488 | N/A | NG_011968.1:g.67287G>A | BCL11A | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011968.1 | 67287 |
| 2071 | rs1427407 | N/A | NG_011968.1:g.67591A>C | BCL11A | Modifier | Hb F levels, Pain, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Abnormal platelet count, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia | NG_011968.1 | 67591 |
| 3101 | rs6545817 | N/A | NG_011968.1:g.70455G>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 70455 |
| 2093 | rs6545816 | N/A | NG_011968.1:g.70773T>G | BCL11A | Modifier | Hb F levels, F-cell numbers, Abnormal platelet count | NG_011968.1 | 70773 |
| 2069 | rs10189857 | N/A | NG_011968.1:g.72399T>C | BCL11A | Modifier | N/A | NG_011968.1 | 72399 |
| 3183 | rs13019832 | N/A | NG_011968.1:g.75063C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 75063 |
| 2068 | rs6732518 | N/A | NG_011968.1:g.77037G>A | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 77037 |
| 2794 | rs7579014 | N/A | NG_011968.1:g.77740C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 77740 |
| 3165 | rs7593947 | N/A | NG_011968.1:g.80701T>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 80701 |
| 3164 | rs7581162 | N/A | NG_011968.1:g.81150A>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 81150 |
| 3416 | rs12477097 | N/A | NG_011968.1:g.87237T>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 87237 |
| 3859 | rs7569946 | N/A | NC_000002.12:g.60460824A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 97675 |
| 2795 | rs17331129 | N/A | NG_011968.1:g.105692A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 105692 |
| 2096 | rs9399137 | N/A | NC_000006.12:g.135097880T>C | HBS1L-MYB | Modifier | Hb F levels, Acute chest syndrome, Pain, Abnormal platelet count, Abnormal red blood cell count | NT_025741.15 | |
| 2099 | rs4895441 | N/A | NC_000006.12:g.135105435A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
| 2101 | rs9402686 | N/A | NC_000006.12:g.135106679G>A | HBS1L-MYB | Modifier | Hb F levels, Acute chest syndrome | NT_025741.15 | |
| 2104 | rs35959442 | N/A | NC_000006.12:g.135103041C>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
| 2840 | rs66650371 | N/A | NC_000006.12:g.135097495_135097497delTAC | HBS1L-MYB | Modifier | Hb F levels, Abnormal platelet count, Abnormal white blood cell count, Abnormal red blood cell count, Anaemia | NT_025741.15 | |
| 2841 | rs35786788 | N/A | NC_000006.12:g.135097904G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
| 2842 | rs9494145 | N/A | NC_000006.12:g.135111414T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
| 3331 | rs1547247 | N/A | NC_000006.11:g.135390836G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
| 3857 | rs13220662 | N/A | NC_000006.12:g.135074410G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
| 3911 | rs796512567 | N/A | NC_000006.12:g.135097900_135097901delinsA | HBS1L-MYB | Modifier | Hb F levels, Acute chest syndrome | NT_025741.15 | |
| 3912 | rs7776196 | N/A | NC_000006.12:g.135097850A>G | HBS1L-MYB | Modifier | Pain | NT_025741.15 | |
| 2097 | rs7775698 | N/A | NC_000006.12:g.135097497C>T | HBS1L-MYB | Modifier | Hb F levels, Abnormal red blood cell count | NT_025741.15 | 0 |
| 2098 | rs9389268 | N/A | NC_000006.12:g.135098493A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2100 | rs6929404 | N/A | NC_000006.12:g.135132889C>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2102 | rs1320963 | N/A | NC_000006.12:g.135122074A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2103 | rs6904897 | N/A | NC_000006.12:g.135061842T>G | HBS1L-MYB | Modifier | F-cell numbers | NT_025741.15 | 0 |
| 2105 | rs9376090 | N/A | NC_000006.12:g.135090090T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2106 | rs4895440 | N/A | NC_000006.12:g.135105420A>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2109 | rs9402685 | N/A | NC_000006.12:g.135098550T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2110 | rs11759553 | N/A | NC_000006.12:g.135101158A>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2111 | rs6934903 | N/A | NC_000006.12:g.135130426T>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2112 | rs114398597 | N/A | NC_000006.12:g.135107536A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2837 | rs9376092 | N/A | NC_000006.12:g.135106006C>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2838 | rs9389269 | N/A | NC_000006.12:g.135106021T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2839 | rs9483788 | N/A | NC_000006.12:g.135114363T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2843 | rs41294858 | N/A | NC_000006.12:g.135091498T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2844 | rs55731938 | N/A | NC_000006.12:g.135093712G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2845 | rs7745098 | N/A | NC_000006.12:g.135093866C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2846 | rs76267242 | N/A | NC_000006.12:g.135096322G>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2847 | rs11321816 (rs148201067) | N/A | NC_000006.12:g.135097900C>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2848 | rs1074849 | N/A | NC_000006.12:g.135102274G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2849 | rs1411919 | N/A | NC_000006.12:g.135110923A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2850 | rs2223385 | N/A | NC_000006.12:g.135114033G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2851 | rs1569534 | N/A | NC_000006.12:g.135130442C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3166 | rs34208856 | N/A | NC_000006.12:g.135099930delT | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3167 | rs11356238 | N/A | NC_000006.12:g.135103586delT | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3168 | rs41294854 | N/A | NC_000006.12:g.135080233C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3169 | rs56076748 | N/A | NC_000006.12:g.135093071G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3170 | rs41294862 | N/A | NC_000006.12:g.135098116T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3337 | rs6920211 | N/A | NC_000006.12:g.135110180T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3410 | rs9494142 (rs11154792) | N/A | NC_000006.12:g.135110502T>C | HBS1L-MYB | Modifier | Hb F levels, F-cell numbers | NT_025741.15 | 0 |
| 3413 | rs6913541 | N/A | NC_000006.12:g.135087978A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3414 | rs9494139 | N/A | NC_000006.12:g.135093655A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3415 | rs6569992 | N/A | NC_000006.12:g.135131014G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3419 | rs2210366 | N/A | NC_000006.12:g.135094070G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3420 | rs9376093 | N/A | NC_000006.12:g.135124310C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3421 | rs2078213 | N/A | NC_000006.12:g.135136933T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3422 | rs1320959 | N/A | NC_000006.12:g.135116248T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3423 | rs6924609 | N/A | NC_000006.12:g.135119519A>T | NC_000006.12:g.135119519A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3424 | rs9483791 | N/A | NC_000006.12:g.135121387T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3425 | rs9376094 | N/A | NC_000006.12:g.135124676T>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3426 | rs9321485 | N/A | NC_000006.12:g.135126635T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3427 | rs9321486 | N/A | NC_000006.12:g.135126682T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3428 | rs9494149 | N/A | NC_000006.12:g.135128177C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3429 | rs9376095 | N/A | NC_000006.12:g.135129617T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 3430 | rs9385716 | N/A | NC_000006.12:g.135134191A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
| 2095 | rs7776054 | N/A | NC_000006.12:g.135097778A>G | HBS1L-MYB | Modifier | Anaemia | NT_025741.15 | 39588373 |
| 3290 | rs3817621 (-251 C>G ) | N/A | NG_013087.1:g.4813C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 4813 |
| 2346 | -154 C>T | N/A | NG_013087.1:g.4910C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 4910 |
| 3092 | -148 G>A | N/A | NG_013087.1:g.4916G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 4916 |
| 2514 | CD 5 GAG>AAG [Glu>Lys] | N/A | NG_013087.1:g.5076G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 5076 |
| 2084 | CD 51 (CTC>CGC) | N/A | NG_013087.1:g.6126T>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6126 |
| 2076 | CD 54-57 (-11bp): (-GAAGTCTGAGG) | N/A | NG_013087.1:g.6133_6143delGAAGTCTGAGG | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6133 |
| 2341 | CD 58 (CAG>TAG) | N/A | NG_013087.1:g.6146C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6146 |
| 3291 | CD 102 TCC>CCC [Ser>Pro] (c.304T>C, p.S102P) | N/A | NG_013087.1:g.6278T>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6278 |
| 4103 | p.Gly176AlafsX179 | N/A | NC_000019.10(NM_006563.5):c.525_526insGCGCCGG | KLF1 | Modifier | N/A | NG_013087.1 | 6499 |
| 2085 | CD 175/176 (+7bp): (+CGGCGCC) (c.519_525dupCGGCGCC, p.Gly176Argfs*179) | N/A | NG_013087.1:g.6493_6499dupCGGCGCC | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 6500 |
| 3485 | CD 182 TTC>CTC [Phe>Leu] (rs2072596, p.F182L) | N/A | NG_013087.1:g.6518T>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6518 |
| 3216 | rs765026103 (CD 211 CAG>CGG [Gln>Arg] , c.632 A>G) | N/A | NG_013087.1:g.6606A>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6606 |
| 3087 | CD 217 CAG>TAG [Gln>Stop] | N/A | NG_013087.1:g.6623C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6623 |
| 3088 | CD223 CAG>TAG [Gln>Stop] | N/A | NG_013087.1:g.6641C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6641 |
| 2131 | CD 270 (TCG>TAG) | N/A | NG_013087.1:g.6783C>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6783 |
| 2515 | CD 270 TCG>TGG | N/A | NG_013087.1:g.6783C>G | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 6783 |
| 2557 | CD 279 (CAC>CAG) | N/A | NG_013087.1:g.6811C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6811 |
| 2088 | CD 288 (AAG>TAG) | N/A | NG_013087.1:g.6836A>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6836 |
| 3091 | CD 290/293 (-12bp) or CD 290/294 (-12bp) | N/A | NG_013087.1:g.6842_6853delTACACCAAGAGC | NG_013087.1:g.6843_6854delACACCAAGAGCT | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6842, 6843 |
| 2345 | CD 298 (GCG>CCG) | N/A | NG_013087.1:g.6866G>C | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 6866 |
| 2512 | CD 299 (CAT>GAT) | N/A | NG_013087.1:g.6869C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6869 |
| 2077 | CD 301 CGC>TGC [Arg>Cys] (p.R301C) | N/A | NG_013087.1:g.6875C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6875 |
| 2078 | CD 301 CGC>CAC [Arg>His] (p.R301H) | N/A | NG_013087.1:g.6876G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6876 |
| 2278 | CD 302 (+4bp): (+GCGC) | N/A | NG_013087.1:g.6877_6878insGCGC | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6877 |
| 2083 | IVS II-1 (G>A) (c.913+1 G>A) | N/A | NG_013087.1:g.6888G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6888 |
| 2087 | IVS II-252_255 (-4bp): (-CTAG) | N/A | NG_013087.1:g.7140_7143delCTAG | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7140 |
| 3090 | CD 307 AAG>AAC [Lys>Asn] | N/A | NG_013087.1:g.7151G>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7151 |
| 2079 | CD 313 (TGG>TGT) | N/A | NG_013087.1:g.7169G>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7169 |
| 3486 | CD 314 GAA>GA- (c.942delA) | N/A | NG_013087.1:g.7172delA | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7172 |
| 3093 | CD 316 TGC>TAC [Cys>Tyr] | N/A | NG_013087.1:g.7177G>A | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 7177 |
| 2296 | CD 319 (+1bp): (+G) | N/A | NG_013087.1:g.7184dupG | KLF1 | Modifier | N/A | NG_013087.1 | 7184 |
| 3138 | CD 323 TCG>TTG [Ser>Leu] (p.Ser323Leu) | N/A | NG_013087.1:g.7198C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7198 |
| 2132 | CD 325 GAG>AAG [Glu>Lys] (E325K) | N/A | NG_013087.1:g.7203G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7203 |
| 2293 | CD 326 (GAG>AAG) | N/A | NG_013087.1:g.7207G>T | KLF1 | Modifier | N/A | NG_013087.1 | 7207 |
| 2294 | CD 327 (ACC>AGC) | N/A | NG_013087.1:g.7210C>G | KLF1 | Modifier | N/A | NG_013087.1 | 7210 |
| 2517 | CD 328 CGC>-GC | N/A | NG_013087.1:g.7212delC | KLF1 | Modifier | Anaemia | NG_013087.1 | 7212 |
| 2080 | CD 328 (CGC>CAC) | N/A | NG_013087.1:g.7213G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7213 |
| 2081 | CD 328 (CGC>CTC) | N/A | NG_013087.1:g.7213G>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7213 |
| 2558 | CD 329 (CAC>CGC) | N/A | NG_013087.1:g.7216A>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7216 |
| 2343 | CD 331 (CGG>TGG) | N/A | NG_013087.1:g.7221C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7221 |
| 2277 | CD 332 (AAA>CAA) | N/A | NG_013087.1:g.7224A>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7224 |
| 2082 | CD 334 (ACG>AAG) | N/A | NG_013087.1:g.7231C>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7231 |
| 2086 | CD 334 (ACG>AGG) | N/A | NG_013087.1:g.7231C>G | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 7231 |
| 2344 | CD 335 GGG>AGG | N/A | NG_013087.1:g.7233G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7233 |
| 2516 | CD 338 CCC>ACC [Pro>Thr] | N/A | NG_013087.1:g.7242C>A | KLF1 | Modifier | N/A | NG_013087.1 | 7242 |
| 2513 | rs483352839 (CD 341 TGC>TAC [Cys>Tyr], C341Y) | N/A | NG_013087.1:g.7252G>A | KLF1 | Modifier | Hb F levels, Increased Hb A2 levels | NG_013087.1 | 7252 |
| 2559 | CD 357 (CAC>CCC) | N/A | NG_013087.1:g.7300C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7300 |
| 3089 | CD 358 ATG>ATT [Met>Ile] | N/A | NG_013087.1:g.7304G>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7304 |
| 3149 | CD 360 CGC>CAC [Arg>His] | N/A | NG_013087.1:g.7309G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7309 |
| 2113 | rs6530488 | N/A | NG_016419.1:g.49197C>T | FRMPD4 | Modifier | Hb F levels | NG_016419.1 | 49197 |
| 3698 | rs16998911 | N/A | NG_016419.1:g.49280T>C | FRMPD4 | Modifier | Hb F levels, F-cell numbers | NG_016419.1 | 49280 |
| 2114 | IVS XII-9251 G>A (rs12559632) | N/A | NG_007563.1:g.115072G>A | PHEX | Modifier | F-cell numbers | NG_007563.1 | 115072 |
| 2115 | rs16981804 | N/A | NG_007563.2:g.133649C>T | PHEX | Modifier | Hb F levels | NG_007563.1 | 133649 |
| 2117 | rs6037828 | N/A | NG_011970.1:g.40474G>A | CSNK2A1 | Modifier | Hb F levels | NG_011970.1 | 40474 |
| 3343 | rs743811 | N/A | NC_000022.10:g.35792974T>C | HMOX1 | Modifier | Abnormal GFR, Albuminuria | NG_023030.1 | |
| 2120 | -495 (A>T) (rs2071746) | N/A | NG_023030.1:g.4613A>T | HMOX1 | Modifier | Hb F levels, Stroke, Vaso-occlusive crisis | NG_023030.1 | 4613 |
| 2789 | rs3074372 | N/A | NG_023030.1:g.4828_4829insGT | HMOX1 | Modifier | Acute chest syndrome | NG_023030.1 | 4828 |
| 2788 | rs12160039 | N/A | NG_023030.1:g.18226T>A, NG_023030.1:g.18226T>C | HMOX1 | Modifier | Acute chest syndrome | NG_023030.1 | 18226 |
| 2129 | rs708564 | N/A | NG_023386.1:g.16553C>T | CD81 | Modifier | Red blood cell alloimmunisation | NG_023386.1 | 16553 |
| 2130 | rs2237863 | N/A | NG_023386.1:g.19251T>C | CD81 | Modifier | Red blood cell alloimmunisation | NG_023386.1 | 19251 |
| 2118 | rs4969555 | N/A | NG_016387.1:g.6517A>G | EIF2S3 | Modifier | Hb F levels | NG_016387.1 | 6517 |
| 2133 | rs10494225 | N/A | NG_011967.1:g.11702C>G | HAO2 | Modifier | Hb F response to hydroxyurea | NG_011967.1 | 11702 |
| 2134 | rs2327669 | N/A | NG_011994.1:g.47849C>G | PDE7B | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011994.1 | 47849 |
| 2135 | rs11154849 | N/A | NG_011994.1:g.185472C>T | PDE7B | Modifier | Hb F response to hydroxyurea | NG_011994.1 | 185472 |
| 2136 | rs9376173 | N/A | NG_011994.1:g.191613A>C | PDE7B | Modifier | Hb F response to hydroxyurea | NG_011994.1 | 191613 |
| 4021 | rs2209331 | N/A | NC_000006.12:g.136121468G>A | PDE7B | Modifier | Hb F response to hydroxyurea | NG_011994.1 | 274773 |
| 2137 | rs1480642 | N/A | NG_011994.1:g.331695C>T | PDE7B | Modifier | Hb F response to hydroxyurea | NG_011994.1 | 331695 |
| 2138 | IVS X-1549 A>G (rs487278) | N/A | NG_011994.1:g.333995G>A | PDE7B | Modifier | Hb F response to hydroxyurea | NG_011994.1 | 333995 |
| 2143 | rs380620 | N/A | NG_011993.1:g.54236G>C | TOX | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011993.1 | 54236 |
| 2168 | rs172652 | N/A | NG_011993.1:g.78627T>C | TOX | Modifier | Hb F response to hydroxyurea | NG_011993.1 | 78627 |
| 2142 | rs9693712 | N/A | NG_011993.1:g.89345G>A | TOX | Modifier | Hb F response to hydroxyurea | NG_011993.1 | 89345 |
| 2694 | rs851800 | N/A | NG_011993.1:g.97586T>G | TOX | Modifier | Hb F levels | NG_011993.1 | 97586 |
| 2693 | rs4737532 | N/A | NG_011993.1:g.99125C>T | TOX | Modifier | Hb F levels | NG_011993.1 | 99125 |
| 2692 | rs389349 | N/A | NG_011993.1:g.99652A>C | TOX | Modifier | Hb F levels | NG_011993.1 | 99652 |
| 2704 | rs12545204 | N/A | NG_011993.1:g.150456A>T | TOX | Modifier | Hb F levels | NG_011993.1 | 150456 |
| 2703 | rs10283344 | N/A | NG_011993.1:g.153441T>A | TOX | Modifier | Hb F levels | NG_011993.1 | 153441 |
| 2691 | rs1947178 | N/A | NG_011993.1:g.164591T>C | TOX | Modifier | Hb F levels | NG_011993.1 | 164591 |
| 2141 | rs12155519 | N/A | NG_011993.1:g.187938C>T | TOX | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011993.1 | 187938 |
| 2690 | rs6997859 | N/A | NG_011993.1:g.190657A>C | TOX | Modifier | Hb F levels | NG_011993.1 | 190657 |
| 2689 | rs10504269 | N/A | NG_011993.1:g.194098T>G | TOX | Modifier | Hb F levels | NG_011993.1 | 194098 |
| 2140 | rs765587 | N/A | NG_011993.1:g.245865A>G | TOX | Modifier | Hb F response to hydroxyurea | NG_011993.1 | 245865 |
| 2702 | rs2594953 | N/A | NG_011993.1:g.246558C>G | TOX | Modifier | Hb F levels | NG_011993.1 | 246558 |
| 2701 | rs1349115 | N/A | NG_011993.1:g.275034A>G | TOX | Modifier | Hb F levels | NG_011993.1 | 275034 |
| 2700 | rs3779999 | N/A | NG_011993.1:g.292546G>A | TOX | Modifier | Hb F levels | NG_011993.1 | 292546 |
| 2699 | rs826730 | N/A | NG_011993.1:g.295878A>C | TOX | Modifier | Hb F levels | NG_011993.1 | 295878 |
| 2169 | rs826729 | N/A | NG_011993.1:g.297855C>T | TOX | Modifier | Hb F response to hydroxyurea | NG_011993.1 | 297855 |
| 2698 | rs7817609 | N/A | NG_011993.1:g.301929G>C | TOX | Modifier | Hb F levels | NG_011993.1 | 301929 |
| 2697 | rs7821556 | N/A | NG_011993.1:g.304719A>T | TOX | Modifier | Hb F levels | NG_011993.1 | 304719 |
| 2696 | rs3109904 | N/A | NG_011993.1:g.311267T>G | TOX | Modifier | Hb F levels | NG_011993.1 | 311267 |
| 2139 | rs2693430 | N/A | NG_011993.1:g.311720T>C | TOX | Modifier | Hb F response to hydroxyurea | NG_011993.1 | 311720 |
| 2695 | rs2726599 | N/A | NG_011993.1:g.318072G>A | TOX | Modifier | Hb F levels | NG_011993.1 | 318072 |
| 2707 | rs1483757 | N/A | NG_011991.2:g.43043T>C | NOS1 | Modifier | Hb F levels | NG_011991.2 | 43043 |
| 2145 | rs7977109 | N/A | NG_011991.2:g.74243C>T | NOS1 | Modifier | Hb F response to hydroxyurea | NG_011991.2 | 74243 |
| 2144 | rs7309163 | N/A | NG_011991.2:g.75309G>A | NOS1 | Modifier | Hb F response to hydroxyurea | NG_011991.2 | 75309 |
| 2706 | rs3825102 | N/A | NG_011991.2:g.84398G>T | NOS1 | Modifier | Hb F levels | NG_011991.2 | 84398 |
| 2705 | rs2682820 | N/A | NG_011991.2:g.108542A>C | NOS1 | Modifier | Hb F levels | NG_011991.2 | 108542 |
| 2166 | rs816361 | N/A | NG_011991.2:g.149452G>C | NOS1 | Modifier | Hb F response to hydroxyurea | NG_011991.2 | 149452 |
| 2715 | rs600640 | N/A | NG_012003.1:g.10297C>T | FLT1 | Modifier | Hb F levels | NG_012003.1 | 10297 |
| 2714 | rs670084 | N/A | NG_012003.1:g.24482G>T | FLT1 | Modifier | Hb F levels | NG_012003.1 | 24482 |
| 2713 | rs2256849 | N/A | NG_012003.1:g.28414T>C | FLT1 | Modifier | Hb F levels | NG_012003.1 | 28414 |
| 2712 | rs638889 | N/A | NG_012003.1:g.29914A>G | FLT1 | Modifier | Hb F levels | NG_012003.1 | 29914 |
| 2162 | rs8002446 | N/A | NG_012003.1:g.76866C>T | FLT1 | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_012003.1 | 76866 |
| 2160 | rs2387634 | N/A | NG_012003.1:g.83838A>G | FLT1 | Modifier | Hb F response to hydroxyurea | NG_012003.1 | 83838 |
| 2148 | rs2182008 | N/A | NG_012003.1:g.87205T>C | FLT1 | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_012003.1 | 87205 |
| 2711 | rs9508026 | N/A | NG_012003.1:g.89866G>A | FLT1 | Modifier | Hb F levels | NG_012003.1 | 89866 |
| 2710 | rs9513097 | N/A | NG_012003.1:g.97877G>A | FLT1 | Modifier | Hb F levels | NG_012003.1 | 97877 |
| 2147 | rs9319428 | N/A | NG_012003.1:g.100645C>T | FLT1 | Modifier | Hb F response to hydroxyurea | NG_012003.1 | 100645 |
| 2146 | rs3751395 | N/A | NG_012003.1:g.115311G>T | FLT1 | Modifier | Hb F response to hydroxyurea | NG_012003.1 | 115311 |
| 2709 | rs2387632 | N/A | NG_012003.1:g.157923A>G | FLT1 | Modifier | Hb F levels | NG_012003.1 | 157923 |
| 2708 | rs7987291 | N/A | NG_012003.1:g.180060T>C | FLT1 | Modifier | Hb F levels | NG_012003.1 | 180060 |
| 2274 | rs10483801 | N/A | NG_011964.1:g.35428C>A | ARG2 | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011964.1 | 35428 |
| 2275 | rs10483802 | N/A | NG_011964.1:g.35843T>C | ARG2 | Modifier | Hb F response to hydroxyurea | NG_011964.1 | 35843 |
| 2276 | rs944725 | N/A | NG_011470.1:g.22985G>A | NOS2 | Modifier | Hb F response to hydroxyurea | NG_011470.1 | 22985 |
| 2170 | rs1137933 | N/A | NG_011470.1:g.26624C>T | NOS2 | Modifier | Hb F response to hydroxyurea | NG_011470.1 | 26624 |
| 2227 | rs9483947 | N/A | NG_011965.1:g.13257G>A | MAP3K5 | Modifier | Hb F response to hydroxyurea | NG_011965.1 | 13257 |
| 2229 | rs9376230 | N/A | NG_011965.1:g.16292G>T | MAP3K5 | Modifier | Hb F response to hydroxyurea | NG_011965.1 | 16292 |
| 2853 | rs7586110 | N/A | NG_002601.2:g.97138T>G | UGT1A10 | Modifier | Bilirubin levels | NG_002601.2 | 97138 |
| 2854 | rs10168155 | N/A | NG_002601.2:g.103447C>T | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 103447 |
| 2855 | rs10168416 | N/A | NG_002601.2:g.103698C>G | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 103698 |
| 2856 | rs6759892 | N/A | NG_002601.2:g.108280T>G | UGT1A10 | Modifier | Gallstones, Bilirubin levels, Response to deferiprone | NG_002601.2 | 108280 |
| 2857 | rs1105880 | N/A | NG_002601.2:g.108576A>G | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 108576 |
| 2858 | rs2070959 | N/A | NG_002601.2:g.108802A>G | UGT1A10, UGT1A6 | Modifier | Gallstones, Bilirubin levels, Response to deferiprone | NG_002601.2 | 108802 |
| 2859 | rs1105879 | N/A | NG_002601.2:g.108813A>C | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 108813 |
| 2860 | rs17863787 | N/A | NG_002601.2:g.117705T>G | UGT1A10 | Modifier | Bilirubin levels | NG_002601.2 | 117705 |
| 2866 | rs3755319 | N/A | NG_002601.2:g.174193A>C | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 174193 |
| 2852 | rs887829 | N/A | NG_002601.2:g.175181C>T | UGT1A10, UGT1A6 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 175181 |
| 2867 | rs8175347 | N/A | NG_002601.2:g.175492_175493TA[5][6][7][8] | UGT1A1 | Modifier | Hb F levels, Gallstones, Bilirubin levels, Abnormal red blood cell count, Anaemia | NG_002601.2 | 175492 |
| 2861 | rs6742078 | N/A | NG_002601.2:g.179250G>T | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 179250 |
| 2862 | rs4148324 | N/A | NG_002601.2:g.179333T>G | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 179333 |
| 2863 | rs3771341 | N/A | NG_002601.2:g.179850G>A | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 179850 |
| 2864 | rs4148325 | N/A | NG_002601.2:g.179920C>T | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 179920 |
| 2865 | rs4148326 | N/A | NG_002601.2:g.180073T>C | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 180073 |
| 2286 | -473 (A>G) (11943(A>G), c.-201A, rs4499252) | N/A | NT_010393.16:g.31478982A>G | AHSP | Neutral | N/A | NT_010393.16 | 31478982 |
| 2287 | -126 (-TTT) (12020(T15>T18), c.-126TdelTTT, rs5816533 ) | N/A | NT_010393.16:g.31479059delTTT | AHSP | Modifier | Anaemia | NT_010393.16 | 31479059 |
| 2288 | IVS I-103 (G>A) (12347 (G>A), c.100-72G, rs8050390) | N/A | NT_010393.16:g.31479386G>A | AHSP | Neutral | N/A | NT_010393.16 | 31479386 |
| 2289 | IVS I-146 (G>A) (12391 (G>A), c.100-27G, rs4296276) | N/A | NT_010393.16:g.31479430G>A | AHSP | Modifier | Anaemia | NT_010393.16 | 31479430 |
| 2291 | CD 56 GTG > GGG (V56G, rs186590045) | N/A | NT_010393.16:g.31479870T>G | AHSP | Modifier | Anaemia | NT_010393.16 | 31479870 |
| 2290 | CD 77 CTG>CTT (12895 (G>T), L77L, rs17677) | N/A | NT_010393.16:g.31479934G>T | AHSP | Neutral | N/A | NT_010393.16 | 31479934 |
| 2684 | rs10518707 | N/A | NG_011990.1:g.12428A>G | SMAD3 | Modifier | Bacteremia | NG_011990.1 | 12428 |
| 2716 | rs8038623 | N/A | NG_011990.1:g.53281G>A | SMAD3 | Modifier | Hb F levels | NG_011990.1 | 53281 |
| 2685 | rs5014202 | N/A | NG_012244.1:g.858T>C | SMAD6 | Modifier | Bacteremia | NG_012244.1 | 858 |
| 2717 | rs1440372 | N/A | NG_012244.1:g.43478T>C | SMAD6 | Modifier | Hb F levels | NG_012244.1 | 43478 |
| 3552 | APOE ε4 (rs429358, rs7412) | N/A | NG_007084.2:g.[7903T>C;8041C>T] | APOE | Modifier | Left ventricular diastolic dysfunction | NG_007084.2 | 7903, 8041 |
| 3332 | rs4025935 | N/A | NG_009246.1:g.4023_4024delTG | GSTM1 | Modifier | Cardiac iron load, Anaemia | NG_009246.1 | 4023 |
| 2623 | rs713753 | N/A | NG_023228.1:g.14418C>T | APOL1 | Modifier | Focal segmental glomerulosclerosis | NG_023228.1 | 14418 |
| 2594 | rs2239785 | N/A | NG_023228.1:g.17214G>A | APOL1 | Modifier | Focal segmental glomerulosclerosis | NG_023228.1 | 17214 |
| 2593 | rs73885319 (APOL1 G1) | N/A | NG_023228.1:g.17790A>G | APOL1 | Modifier | Stroke, Abnormal GFR, Proteinuria, Focal segmental glomerulosclerosis, Albuminuria | NG_023228.1 | 17790 |
| 3206 | rs71785313 (APOL1 G2) | N/A | NG_023228.1:g.17930_17935delTTATAA | APOL1 | Modifier | Abnormal GFR, Proteinuria, Albuminuria | NG_023228.1 | 17930 |
| 3548 | rs933224 | N/A | NG_011884.2:g.23061A>G | MYH9 | Modifier | Abnormal GFR | NG_011884.2 | 23061 |
| 2641 | rs16996672 | N/A | NG_011884.2:g.63094G>A | MYH9 | Modifier | Proteinuria, Focal segmental glomerulosclerosis | NG_011884.2 | 63094 |
| 2640 | rs1005570 | N/A | NG_011884.2:g.73790T>C | MYH9 | Modifier | Proteinuria | NG_011884.2 | 73790 |
| 2639 | rs8141189 | N/A | NG_011884.2:g.74354A>T | MYH9 | Modifier | Proteinuria | NG_011884.2 | 74354 |
| 2646 | rs8141971 | N/A | NG_011884.2:g.77702T>C | MYH9 | Modifier | Focal segmental glomerulosclerosis | NG_011884.2 | 77702 |
| 2645 | rs4820230 | N/A | NG_011884.2:g.79525C>T | MYH9 | Modifier | Focal segmental glomerulosclerosis | NG_011884.2 | 79525 |
| 2644 | rs2157256 | N/A | NG_011884.2:g.81403T>C | MYH9 | Modifier | Focal segmental glomerulosclerosis | NG_011884.2 | 81403 |
| 2638 | rs1557529 | N/A | NG_011884.2:g.83535T>C | MYH9 | Modifier | Proteinuria | NG_011884.2 | 83535 |
| 2637 | rs5750248 | N/A | NG_011884.2:g.86173A>G | MYH9 | Modifier | Proteinuria | NG_011884.2 | 86173 |
| 2642 | rs4821481 | N/A | NG_011884.2:g.93123G>A | MYH9 | Modifier | Focal segmental glomerulosclerosis | NG_011884.2 | 93123 |
| 2636 | rs16996648 | N/A | NG_011884.2:g.96313A>G | MYH9 | Modifier | Proteinuria | NG_011884.2 | 96313 |
| 2635 | rs11912763 | N/A | NG_011884.2:g.104343C>T | MYH9 | Modifier | Proteinuria | NG_011884.2 | 104343 |
| 2614 | rs2240036 | N/A | NG_009245.1:g.157293T>C | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 157293 |
| 2615 | rs4145993 | N/A | NG_009245.1:g.242152T>C | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 242152 |
| 2616 | rs17022863 | N/A | NG_009245.1:g.265607A>G | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 265607 |
| 2617 | rs1434549 | N/A | NG_009245.1:g.336782T>C | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 336782 |
| 2618 | rs1560909 | N/A | NG_009245.1:g.346101A>G | BMPR1B | Modifier | Leg ulcers | NG_009245.1 | 346101 |
| 2619 | rs7661539 | N/A | NG_009245.1:g.354928C>T | BMPR1B | Modifier | Leg ulcers | NG_009245.1 | 354928 |
| 3086 | rs1800469 | N/A | NG_013364.1:g.4536T>C | TGFB1 | Modifier | N/A | NG_013364.1 | 4536 |
| 2784 | rs55659002 (713-8delC) | N/A | NG_013364.1:g.16889delC | TGFB1 | Modifier | Osteoporosis | NG_013364.1 | 16889 |
| 2911 | Sp1 polymorphism (rs1800012) | N/A | NG_007400.1:g.6252G>T | COL1A1 | Modifier | Osteoporosis | NG_007400.1 | 6252 |
| 2944 | rs2228570 | N/A | NG_008731.1:g.30920T>C | VDR | Modifier | Osteoporosis | NG_008731.1 | 30920 |
| 2910 | BsmI polymorphism (rs1544410) | N/A | NG_008731.1:g.63980G>A | VDR | Modifier | Osteoporosis | NG_008731.1 | 63980 |
| 2774 | rs398655 | N/A | NG_011485.1:g.2082A>C | KL | Modifier | Hb F levels | NG_011485.1 | 2082 |
| 2589 | rs576404 | N/A | NG_011485.1:g.7530C>A | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 7530 |
| 2588 | rs499091 | N/A | NG_011485.1:g.8586A>G | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 8586 |
| 2587 | rs2238166 | N/A | NG_011485.1:g.9111C>T | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 9111 |
| 2586 | rs211234 | N/A | NG_011485.1:g.9558G>A | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 9558 |
| 2578 | rs211235 | N/A | NG_011485.1:g.9630T>G | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 9630 |
| 2585 | rs211239 | N/A | NG_011485.1:g.10619A>G | KL | Modifier | Osteonecrosis/Avascular necrosis, Priapism | NG_011485.1 | 10619 |
| 2584 | rs565587 | N/A | NG_011485.1:g.14089A>G | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 14089 |
| 2583 | rs516306 | N/A | NG_011485.1:g.14707T>C | KL | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis | NG_011485.1 | 14707 |
| 2577 | rs480780 | N/A | NG_011485.1:g.21749G>T | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 21749 |
| 2747 | rs577912 | N/A | NG_011485.1:g.24581T>G | KL | Modifier | Hb F levels | NG_011485.1 | 24581 |
| 2748 | rs7982726 | N/A | NG_011485.1:g.25141T>C | KL | Modifier | Hb F levels | NG_011485.1 | 25141 |
| 2581 | rs685417 | N/A | NG_011485.1:g.27562G>A | KL | Modifier | Hb F levels, Leg ulcers, Osteonecrosis/Avascular necrosis | NG_011485.1 | 27562 |
| 3543 | rs656525 | N/A | NG_011485.1:g.37107A>C | KL | Modifier | Acute chest syndrome | NG_011485.1 | 37107 |
| 3330 | rs1888057 | N/A | NG_011485.1:g.37125C>T | KL | Modifier | Pulmonary arterial hypertension | NG_011485.1 | 37125 |
| 2647 | rs2249358 | N/A | NG_011485.1:g.37594G>A | KL | Modifier | Priapism | NG_011485.1 | 37594 |
| 2749 | rs9527025 | N/A | NG_011485.1:g.42623G>C | KL | Modifier | Hb F levels | NG_011485.1 | 42623 |
| 2580 | rs2149860 | N/A | NG_011485.1:g.43419A>G | KL | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis | NG_011485.1 | 43419 |
| 2750 | rs648202 | N/A | NG_011485.1:g.49893T>C | KL | Modifier | Hb F levels | NG_011485.1 | 49893 |
| 2673 | rs8041224 | N/A | NG_009492.1:g.109905T>C | IGF1R | Modifier | Bacteremia | NG_009492.1 | 109905 |
| 2674 | rs2872060 | N/A | NG_009492.1:g.311733G>T | IGF1R | Modifier | Bacteremia | NG_009492.1 | 311733 |
| 2773 | rs2238426 | N/A | NC_000016.10:g.3953732A>G | ADCY9 | Modifier | Stroke | NG_011434.1 | |
| 2772 | rs437115 | N/A | NG_011434.1:g.14764A>G | ADCY9 | Modifier | Stroke | NG_011434.1 | 14764 |
| 2654 | rs2283497 | N/A | NG_011434.1:g.105126C>A | ADCY9 | Modifier | Stroke | NG_011434.1 | 105126 |
| 2653 | rs2072338 | N/A | NG_011434.1:g.114260T>C | ADCY9 | Modifier | Stroke | NG_011434.1 | 114260 |
| 2651 | rs2238432 | N/A | NG_011434.1:g.157046C>T | ADCY9 | Modifier | Stroke | NG_011434.1 | 157046 |
| 3905 | rs3103333 | N/A | NC_000001.11:g.91836023G>A | NC_000001.11:g.91836023G>C | TGFBR3 | Modifier | Priapism | NG_027757.1 | |
| 2606 | rs284157 | N/A | NG_027757.1:g.104640G>A | TGFBR3 | Modifier | Acute chest syndrome, Osteonecrosis/Avascular necrosis | NG_027757.1 | 104640 |
| 2904 | rs17443164 | N/A | NG_027757.1:g.130512G>C | TGFBR3 | Modifier | Pulmonary arterial hypertension | NG_027757.1 | 130512 |
| 2609 | rs10874940 | N/A | NG_027757.1:g.134374G>A | TGFBR3 | Modifier | Pulmonary arterial hypertension | NG_027757.1 | 134374 |
| 2607 | rs7526590 | N/A | NG_027757.1:g.155106T>A | TGFBR3 | Modifier | Priapism, Pulmonary arterial hypertension | NG_027757.1 | 155106 |
| 2608 | rs2038931 | N/A | NG_027757.1:g.202145C>T | TGFBR3 | Modifier | Leg ulcers | NG_027757.1 | 202145 |
| 2610 | rs284875 | N/A | NG_027757.1:g.205852T>C | TGFBR3 | Modifier | Stroke | NG_027757.1 | 205852 |
| 2612 | rs2007686 | N/A | NG_027757.1:g.214117G>A | TGFBR3 | Modifier | Stroke | NG_027757.1 | 214117 |
| 2613 | rs2765888 | N/A | NG_027757.1:g.214268G>A | TGFBR3 | Modifier | Stroke, Bacteremia | NG_027757.1 | 214268 |
| 2624 | rs603085 | N/A | NG_011828.1:g.19114A>G | TEK | Modifier | Leg ulcers | NG_011828.1 | 19114 |
| 2652 | rs489347 | N/A | NG_011828.1:g.83070C>G | TEK | Modifier | Stroke | NG_011828.1 | 83070 |
| 2745 | rs2305948 | N/A | NG_012004.1:g.17205G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 17205 |
| 2744 | rs7654599 | N/A | NG_012004.1:g.20595G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 20595 |
| 2743 | rs6828477 | N/A | NG_012004.1:g.29962G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 29962 |
| 2742 | rs6554233 | N/A | NG_012004.1:g.31044T>C | KDR | Modifier | Hb F levels | NG_012004.1 | 31044 |
| 2728 | rs590086 | N/A | NG_011542.1:g.28566C>T | ASS1 | Modifier | Hb F levels | NG_011542.1 | 28566 |
| 2729 | rs652313 | N/A | NG_011542.1:g.31827A>G | ASS1 | Modifier | Hb F levels | NG_011542.1 | 31827 |
| 2730 | rs12555797 | N/A | NG_011542.1:g.42933A>G | ASS1 | Modifier | Hb F levels | NG_011542.1 | 42933 |
| 2946 | rs10901080 | N/A | NG_011542.1:g.43563G>T | ASS1 | Modifier | Hb F response to hydroxyurea | NG_011542.1 | 43563 |
| 2731 | rs543048 | N/A | NG_011542.1:g.49539A>T | ASS1 | Modifier | Hb F levels | NG_011542.1 | 49539 |
| 2947 | rs10793902 | N/A | NG_011542.1:g.62817C>T | ASS1 | Modifier | Hb F response to hydroxyurea | NG_011542.1 | 62817 |
| 2732 | rs4468448 | N/A | NG_011963.2:g.47702T>C | ALOX5AP | Modifier | Hb F levels | NG_011963.2 | 47702 |
| 2733 | rs4769058 | N/A | NG_011963.2:g.50817T>C | ALOX5AP | Modifier | Hb F levels | NG_011963.2 | 50817 |
| 2734 | rs4445746 | N/A | NC_000013.11:g.30767298G>A | ALOX5AP | Modifier | Hb F levels | NG_011963.2 | 30767298 |
| 2805 | rs2580874 | N/A | NG_011588.1:g.11633C>T | AICDA | Modifier | Hb F levels, Severity | NG_011588.1 | 11633 |
| 2629 | rs725937 | N/A | NG_042174.1:g.14905A>G | SPARC | Modifier | Hb F levels | NG_042174.1 | 14905 |
| 2630 | rs6874468 | N/A | NG_042174.1:g.15921C>T | SPARC | Modifier | Hb F levels | NG_042174.1 | 15921 |
| 2628 | rs7719521 | N/A | NG_042174.1:g.22212T>G | SPARC | Modifier | Hb F levels | NG_042174.1 | 22212 |
| 2631 | rs16971033 | N/A | NG_032674.1:g.49520T>C | EFTUD2 | Modifier | Hb F levels | NG_032674.1 | 49520 |
| 2632 | rs2289673 | N/A | NG_032674.1:g.52024A>G | EFTUD2 | Modifier | Hb F levels | NG_032674.1 | 52024 |
| 2633 | rs2304986 | N/A | NG_032674.1:g.53940A>G | EFTUD2 | Modifier | Hb F levels | NG_032674.1 | 53940 |
| 2634 | rs740127 | N/A | NG_011499.1:g.187063C>T | JAZF1 | Modifier | Hb F levels | NG_011499.1 | 187063 |
| 2719 | rs1867380 | N/A | NG_011975.1:g.50874A>G | AQP9 | Modifier | Hb F levels | NG_011975.2 | 50874 |
| 2650 | rs2070744 (-786T>C, T786C) | N/A | NG_011992.1:g.6933C>T | NOS3 | Modifier | Acute chest syndrome, Bilirubin levels, Retinopathy, Delayed menarche, Increased lactate dehydrogenase activity, Reticulocytosis, Recurrent upper respiratory tract infections | NG_011992.1 | 6933 |
| 3549 | 27bp-VNTR (eNOS4a/b) | N/A | NG_011992.1:g.11166_11192[4] | NOS3 | Modifier | Stroke, Pulmonary arterial hypertension, Vaso-occlusive crisis, Red blood cell aggregation, Abnormal neutrophil cell number | NG_011992.1 | 11166 |
| 2948 | rs1799983 (G894T) | N/A | NG_011992.1:g.12965T>G | NOS3 | Modifier | Delayed menarche, Abnormal haematocrit, Increased lactate dehydrogenase activity, Reticulocytosis, Anaemia | NG_011992.1 | 12965 |
| 2735 | rs1008140 | N/A | NG_011992.1:g.22464T>C | NOS3 | Modifier | Hb F levels | NG_011992.1 | 22464 |
| 2736 | rs743507 | N/A | NG_011992.1:g.24342C>T | NOS3 | Modifier | Hb F levels | NG_011992.1 | 24342 |
| 2737 | rs1808593 | N/A | NG_011992.1:g.25156G>T | NOS3 | Modifier | Hb F levels | NG_011992.1 | 25156 |
| 2741 | rs6557420 | N/A | NG_011995.1:g.19853C>A | NOX3 | Modifier | Hb F levels | NG_011995.1 | 19853 |
| 2740 | rs9371889 | N/A | NG_011995.1:g.39392T>C | NOX3 | Modifier | Hb F levels | NG_011995.1 | 39392 |
| 2739 | rs231945 | N/A | NG_011995.1:g.42114G>A | NOX3 | Modifier | Hb F levels | NG_011995.1 | 42114 |
| 2738 | rs231944 | N/A | NG_011995.1:g.42270A>C | NOX3 | Modifier | Hb F levels | NG_011995.1 | 42270 |
| 2726 | rs6654096 | N/A | NG_011988.1:g.10977A>G | GPM6B | Modifier | Hb F levels | NG_011988.1 | 10977 |
| 2725 | rs5979998 | N/A | NG_011988.1:g.27799C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 27799 |
| 2724 | rs4830513 | N/A | NG_011988.1:g.43999C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 43999 |
| 2723 | rs7890737 | N/A | NG_011988.1:g.44878C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 44878 |
| 2720 | rs1005589 | N/A | NG_011988.1:g.70485C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 70485 |
| 2721 | rs11095629 | N/A | NG_011988.1:g.111047G>A | GPM6B | Modifier | Hb F levels | NG_011988.1 | 111047 |
| 2722 | rs5978663 | N/A | NG_011988.1:g.157872G>A | GPM6B | Modifier | Hb F levels | NG_011988.1 | 157872 |
| 2622 | rs157681 | N/A | NG_011966.2:g.45247C>G | MAP3K7 | Modifier | Hb F levels | NG_011966.2 | 45247 |
| 2621 | rs1145729 | N/A | NG_011966.2:g.46574C>T | MAP3K7 | Modifier | Hb F levels | NG_011966.2 | 46574 |
| 2620 | rs157702 | N/A | NG_011966.2:g.74227G>A | MAP3K7 | Modifier | Leg ulcers | NG_011966.2 | 74227 |
| 2891 | rs2012700 | N/A | NG_008462.1:g.40670G>A | PEX7 | Modifier | Hb F levels | NG_008462.1 | 40670 |
| 2892 | rs3799476 | N/A | NG_008462.1:g.45356G>A | PEX7 | Modifier | Hb F levels | NG_008462.1 | 45356 |
| 2893 | rs1342645 | N/A | NG_008462.1:g.68587G>A | PEX7 | Modifier | Hb F levels | NG_008462.1 | 68587 |
| 2604 | rs1019856 | N/A | NG_007490.1:g.53823T>C | TGFBR2 | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis, Stroke | NG_007490.1 | 53823 |
| 2605 | rs934328 | N/A | NG_007490.1:g.64751G>A | TGFBR2 | Modifier | Osteonecrosis/Avascular necrosis | NG_007490.1 | 64751 |
| 2929 | rs3773658 | N/A | NG_007490.1:g.81443A>G | TGFBR2 | Modifier | Stroke | NG_007490.1 | 81443 |
| 2928 | rs876687 | N/A | NG_007490.1:g.82652T>C | TGFBR2 | Modifier | Stroke | NG_007490.1 | 82652 |
| 2909 | rs11969912 (hcv1860621) | N/A | NG_008107.1:g.149950C>T | F13A1 | Modifier | Priapism | NG_008107.1 | 149950 |
| 2897 | rs5923 | N/A | NG_009778.1:g.9063C>T | LCAT | Modifier | Pulmonary arterial hypertension | NG_009778.1 | 9063 |
| 2657 | rs3753306 | N/A | NG_012125.1:g.4146A>G | SELP | Modifier | Stroke | NG_012125.1 | 4146 |
| 2901 | rs6131 | N/A | NG_012125.1:g.23493G>A | SELP | Modifier | Pulmonary arterial hypertension | NG_012125.1 | 23493 |
| 2656 | rs3917733 | N/A | NG_012125.1:g.23868G>A | SELP | Modifier | Stroke | NG_012125.1 | 23868 |
| 2900 | rs2235302 | N/A | NG_012125.1:g.24088G>A | SELP | Modifier | Pulmonary arterial hypertension | NG_012125.1 | 24088 |
| 2655 | rs2420378 | N/A | NG_012125.1:g.34460T>A | SELP | Modifier | Stroke | NG_012125.1 | 34460 |
| 2649 | rs706814 | N/A | NG_009549.1:g.14642A>T | ACVRL1 | Modifier | Pulmonary arterial hypertension | NG_009549.1 | 14642 |
| 2648 | rs1801253 | N/A | NG_012187.1:g.6251G>C | ADRB1 | Modifier | Pulmonary arterial hypertension | NG_012187.1 | 6251 |
| 2908 | rs1624292 | N/A | NG_029954.1:g.65626T>C | NEDD4L | Modifier | Pulmonary arterial hypertension | NG_029954.1 | 65626 |
| 2907 | rs559046 | N/A | NG_029954.1:g.68394A>G | NEDD4L | Modifier | Pulmonary arterial hypertension | NG_029954.1 | 68394 |
| 2902 | rs426634 | N/A | NG_007951.1:g.63342G>A | SLC12A6 | Modifier | Pulmonary arterial hypertension | NG_007951.1 | 63342 |
| 2687 | rs3730070 | N/A | NG_042166.1:g.19032C>G | ADCY6 | Modifier | Haemolytic anaemia, RBC adhesion | NG_042166.1 | 19032 |
| 2903 | rs9804777 | N/A | NG_042166.1:g.23055A>G | ADCY6 | Modifier | Pulmonary arterial hypertension | NG_042166.1 | 23055 |
| 2688 | rs7300155 | N/A | NG_042166.1:g.25282C>T | ADCY6 | Modifier | RBC adhesion | NG_042166.1 | 25282 |
| 2895 | rs6663530 | N/A | NG_007481.1:g.96969G>A | CR1 | Modifier | Pulmonary arterial hypertension | NG_007481.1 | 96969 |
| 3205 | rs2814778 | N/A | NG_011626.2:g.5174T>C | ACKR1 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count, Albuminuria | NG_011626.1 | 5174 |
| 2627 | rs4489951 | N/A | NG_008305.1:g.36684G>A | MAP2K1 | Modifier | Hb F levels | NG_008305.1 | 36684 |
| 2626 | rs8036023 | N/A | NG_008305.1:g.57075G>C | MAP2K1 | Modifier | Leg ulcers | NG_008305.1 | 57075 |
| 2625 | rs9576135 | N/A | NG_016963.1:g.17251T>C | SMAD9 | Modifier | Leg ulcers | NG_016963.1 | 17251 |
| 2906 | rs2068991 | N/A | NG_042284.1:g.25565T>G | SMAD1 | Modifier | Acute chest syndrome | NG_042284.1 | 25565 |
| 2601 | rs538874 | N/A | NG_029752.2:g.566235C>T | STARD13 | Modifier | Osteonecrosis/Avascular necrosis | NG_029752.2 | 566235 |
| 2602 | rs475303 | N/A | NG_029752.2:g.575929A>G | STARD13 | Modifier | Osteonecrosis/Avascular necrosis | NG_029752.2 | 575929 |
| 2675 | rs6586039 | N/A | NG_009362.1:g.57170G>A | BMPR1A | Modifier | Bacteremia | NG_009362.1 | 57170 |
| 2676 | rs17107199 (hCV1663921) | N/A | NG_009362.1:g.167412C>T | BMPR1A | Modifier | Bacteremia | NG_009362.1 | 167412 |
| 3653 | rs3892097 | N/A | NG_008376.3:g.6047G>A | CYP2D6 | Modifier | Response to hydroxyurea | NG_008376.3 | 6047 |
| 2672 | rs7147286 | N/A | NG_008647.1:g.15878C>T | GCH1 | Modifier | Pain | NG_008647.1 | 15878 |
| 2669 | rs12720497 | N/A | NG_012203.1:g.37389C>T | PLA2G4A | Modifier | Pain | NG_012203.1 | 37389 |
| 3553 | rs1800450 | N/A | NG_008196.1:g.5226G>A | MBL2 | Modifier | Recurrent infections | NG_008196.1 | 5226 |
| 3554 | rs1800451 | N/A | NG_008196.1:g.5235G>A | MBL2 | Modifier | Recurrent infections | NG_008196.1 | 5235 |
| 2670 | rs5911 (HPA-3) | N/A | NG_008331.1:g.18809T>G | ITGA2B | Modifier | Vaso-occlusive crisis | NG_008331.1 | 18809 |
| 2671 | rs1801106 (HPA-5) | N/A | NG_008330.1:g.78602G>A | ITGA2 | Modifier | Vaso-occlusive crisis | NG_008330.1 | 78602 |
| 3114 | T8002C | N/A | N/A | EDN1 | Modifier | Acute chest syndrome | NG_016196.1 | 8002 |
| 2592 | rs5369 | N/A | NG_016196.1:g.8730A>G | EDN1 | Modifier | Osteonecrosis/Avascular necrosis | NG_016196.1 | 8730 |
| 3113 | rs5370 (5665G>T) | N/A | NG_016196.1:g.10727G>T | EDN1 | Modifier | Acute chest syndrome, Pulmonary arterial hypertension, Vaso-occlusive crisis | NG_016196.1 | 10727 |
| 2599 | rs212531 | N/A | NG_013008.1:g.88757C>T | ECE1 | Modifier | Stroke | NG_013008.1 | 88757 |
| 2598 | rs212528 | N/A | NG_013008.1:g.91374A>G | ECE1 | Modifier | Stroke | NG_013008.1 | 91374 |
| 2597 | rs212527 | N/A | NG_013008.1:g.92021G>A | ECE1 | Modifier | Osteonecrosis/Avascular necrosis | NG_013008.1 | 92021 |
| 3898 | rs1409419 | N/A | NC_000001.11:g.100717840T>C | VCAM1 | Modifier | Stroke | NG_023034.2 | 3100 |
| 2665 | rs1041163 (−1594T>C) | N/A | NG_023034.2:g.3529T>C | VCAM1 | Modifier | Stroke | NG_023034.2 | 3529 |
| 2667 | rs3783613 (G1238C) | N/A | NG_023034.2:g.16491G>C | VCAM1 | Modifier | Stroke | NG_023034.2 | 16491 |
| 2596 | rs2836430 | N/A | NG_029732.1:g.189152A>C | ERG | Modifier | Osteonecrosis/Avascular necrosis | NG_029732.1 | 189152 |
| 2595 | rs979091 | N/A | NG_029732.1:g.240941G>T | ERG | Modifier | Osteonecrosis/Avascular necrosis | NG_029732.1 | 240941 |
| 2658 | rs989554 | N/A | NG_029732.1:g.251778C>T | ERG | Modifier | Stroke | NG_029732.1 | 251778 |
| 2572 | rs1801133 (C677T) | N/A | NG_013351.1:g.14783C>T | MTHFR | Modifier | Osteonecrosis/Avascular necrosis, Pain, Abnormal circulating homocysteine concentration | NG_013351.1 | 14783 |
| 3198 | rs17778257 | N/A | NG_016421.1:g.3422A>T | ADRB2 | Modifier | Pain | NG_016421.1 | 3422 |
| 3199 | rs12654778 | N/A | NG_016421.1:g.4586G>A | ADRB2 | Modifier | Pain | NG_016421.1 | 4586 |
| 3200 | rs11168070 | N/A | NG_016421.1:g.4772G>C | ADRB2 | Modifier | Pain | NG_016421.1 | 4772 |
| 3202 | rs11959427 | N/A | NG_016421.1:g.4873C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 4873 |
| 3203 | rs1042711 | N/A | NG_016421.1:g.5193C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 5193 |
| 3204 | rs1801704 | N/A | NG_016421.1:g.5220C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 5220 |
| 2686 | rs1042713 | N/A | NG_016421.1:g.5285A>G, NG_016421.1:g.5285A= | ADRB2 | Modifier | Pain, RBC adhesion | NG_016421.1 | 5285 |
| 2659 | rs1042714 (Q27E) | N/A | NG_016421.1:g.5318C>G | ADRB2 | Modifier | Stroke | NG_016421.1 | 5318 |
| 2894 | rs5742911 | N/A | NG_009060.1:g.48389A>G | LDLR | Modifier | Stroke | NG_009060.1 | 48389 |
| 2668 | rs1800629 (–308G>A) | N/A | NG_007462.1:g.4682G>A | TNF | Modifier | Stroke, Decreased serum ferritin | NG_007462.1 | 4682 |
| 2666 | rs3025058 (MMP3 -1171insA , -1171 5A/6A MMP-3) | N/A | NG_012100.1:g.3394_3395insT | MMP3 | Modifier | Stroke | NG_012100.1 | 3394 |
| 2660 | rs1805015 | N/A | NG_012086.1:g.53930T>C | IL4R | Modifier | Stroke | NG_012086.1 | 53930 |
| 2661 | rs730012 | N/A | NG_028161.1:g.4653A>C | LTC4S | Modifier | Stroke | NG_028161.1 | 4653 |
| 2778 | rs38850 | N/A | NG_008996.1:g.30191G>A | MET | Modifier | Stroke | NG_008996.1 | 30191 |
| 2779 | rs38859 | N/A | NG_008996.1:g.71636C>T | MET | Modifier | Stroke | NG_008996.1 | 71636 |
| 2780 | rs4586 | N/A | NG_012123.1:g.5974T>C | CCL2 | Modifier | Stroke | NG_012123.1 | 5974 |
| 2781 | rs25882 | N/A | NG_033024.1:g.6976T>C | CSF2 | Modifier | Stroke | NG_033024.1 | 6976 |
| 2782 | rs7203560 | N/A | NG_029669.1:g.9308A>C | NPRL3 | Modifier | Haemolytic anaemia, Bilirubin levels, Reticulocytopenia | NG_029669.1 | 9308 |
| 3194 | rs570013781 | N/A | NG_029669.1:g.44159C>T | NPRL3 | Modifier | Anaemia | NG_029669.1 | 44159 |
| 2783 | rs6972505 | N/A | NC_000007.14:g.103423590C>G | SLC26A5 | Modifier | Severity | NG_023055.1 | 27588 |
| 3834 | rs7804867 | N/A | NC_000007.14:g.103393310G>A | SLC26A5 | Modifier | Severity | NG_023055.1 | 57868 |
| 2949 | rs8099917 | N/A | NC_000019.10:g.39252525T>G | IFNL3 | Modifier | Response to Hepatitis C treatment | NG_042193.1 | 0 |
| 2786 | rs4803221 | N/A | NG_042193.1:g.1483G>C | IFNL3 | Modifier | Response to Hepatitis C treatment | NG_042193.1 | 1483 |
| 2785 | rs12979860 | N/A | NG_042193.1:g.1825G>A | IFNL3 | Modifier | Response to Hepatitis C treatment | NG_042193.1 | 1825 |
| 2094 | rs28384513 | N/A | NG_012002.1:g.4828A>C | HBS1L | Modifier | Hb F levels | NG_012002.1 | 4828 |
| 3358 | rs2297339 ( C32T, -162C>T) | N/A | NG_012002.1:g.5046C>T | HBS1L | Modifier | Hb F levels | NG_012002.1 | 5046 |
| 3184 | rs11754265 | N/A | NG_012002.1:g.24821C>G | HBS1L | Modifier | Hb F levels | NG_012002.1 | 24821 |
| 3171 | rs186765701 | N/A | NG_012002.1:g.56872T>G | HBS1L | Modifier | Hb F levels | NG_012002.1 | 56872 |
| 3833 | rs4376364 | N/A | NC_000006.12:g.134986347T>G | HBS1L | Modifier | Severity | NG_012002.1 | 73552 |
| 2905 | rs35711585 | N/A | NG_009363.1:g.174302G>C | BMPR2 | Modifier | Pulmonary arterial hypertension | NG_009363.1 | 174302 |
| 2885 | rs17199249 | N/A | NG_009363.1:g.190619T>G | BMPR2 | Modifier | Pulmonary arterial hypertension | NG_009363.1 | 190619 |
| 2920 | rs17599586 | N/A | NG_007086.2:g.15355C>T | ARG1 | Modifier | Hb F response to hydroxyurea | NG_007086.2 | 15355 |
| 2921 | rs1143634 (+3954 C>T) | N/A | NG_008851.1:g.8967C>T | IL1B | Modifier | Osteonecrosis/Avascular necrosis, Pulmonary arterial hypertension, Reticulocytopenia | NG_008851.1 | 8967 |
| 2922 | rs1800797 (-597G>A) | N/A | NG_011640.1:g.4456A>G | IL6 | Modifier | Retinopathy | NG_011640.1 | 4456 |
| 2923 | rs1800795 (-174G>C) | N/A | NG_011640.1:g.4880C>G | IL6 | Modifier | Leg ulcers, Stroke | NG_011640.1 | 4880 |
| 2925 | rs186996510 (12C>G) | N/A | NG_015865.1:g.8168C>G | EGLN1 | Modifier | Anaemia | NG_015865.1 | 8168 |
| 2927 | rs13419896 | N/A | NG_016000.1:g.36805G>A | EPAS1 | Modifier | Anaemia | NG_016000.1 | 36805 |
| 2926 | rs4953354 | N/A | NG_016000.1:g.55848A>G | EPAS1 | Modifier | Anaemia | NG_016000.1 | 55848 |
| 2931 | rs1044498 (K173Q) | N/A | NG_008206.1:g.48213A>C | ENPP1 | Modifier | Stroke | NG_008206.1 | 48213 |
| 2932 | rs662 (Q192R) | N/A | NG_008779.1:g.21439A>G | PON1 | Modifier | Stroke | NG_008779.1 | 21439 |
| 2942 | rs699 | N/A | NG_008836.1:g.9543T>C | AGT | Modifier | Stroke | NG_008836.1 | 9543 |
| 2941 | rs1695 (GSTP1 Ile105Val) | N/A | NG_012075.1:g.6624A>G | GSTP1 | Modifier | Hb F levels, Osteoporosis, Increased Hb A2 levels, Abnormal red blood cell count, Reticulocytopenia | NG_012075.1 | 6624 |
| 2943 | rs2282786 | N/A | NG_011441.1:g.93457T>C | EGF | Modifier | Abnormal platelet count | NG_011441.1 | 93457 |
| 2940 | rs2280789 (g.In1.+1T>C) | N/A | NG_015990.1:g.5375T>C | CCL5 | Modifier | Recurrent infections | NG_015990.1 | 5375 |
| 3491 | rs2076086 | N/A | NG_012856.2:g.40068G>A | TMPRSS6 | Modifier | Abnormal Hb | NG_012856.2 | 40068 |
| 3082 | rs2413450 | N/A | NG_012856.2:g.40380A>G | TMPRSS6 | Modifier | Anaemia | NG_012856.2 | 40380 |
| 3083 | rs4820268 | N/A | NG_012856.2:g.41013C>T | TMPRSS6 | Modifier | Anaemia | NG_012856.2 | 41013 |
| 3085 | rs200434923 | N/A | NG_012856.2:g.45214_45218delCCCCA | TMPRSS6 | Modifier | Abnormal hepcidin level | NG_012856.2 | 45214 |
| 3084 | rs855791 | N/A | NG_012856.2:g.47668T>C | TMPRSS6 | Modifier | Abnormal hepcidin level | NG_012856.2 | 47668 |
| 3094 | rs144300387 | N/A | NG_016323.1:g.6589T>C | PROC | Modifier | Thromboembolism | NG_016323.1 | 6589 |
| 3095 | rs5936 | N/A | NG_016323.1:g.9877G>T | PROC | Modifier | Thromboembolism | NG_016323.1 | 9877 |
| 3096 | rs146922325 | N/A | NG_016323.1:g.12695C>T | PROC | Modifier | Thromboembolism | NG_016323.1 | 12695 |
| 3097 | rs1867504 | N/A | NG_008673.3:g.196A>G | TF | Modifier | Increased serum ferritin, Anaemia | NG_013080.1 | 196 |
| 3098 | rs1799852 | N/A | NG_013080.1:g.15746C>T | TF | Modifier | Decreased serum ferritin | NG_013080.1 | 15746 |
| 3099 | rs3811658 | N/A | NG_013080.1:g.16876C>T | TF | Modifier | Anaemia | NG_013080.1 | 16876 |
| 3115 | rs6025 | N/A | NG_011806.1:g.41721G>A | F5 | Modifier | Thromboembolism | NG_011806.1 | 41721 |
| 3116 | rs1799963 | N/A | NG_008953.1:g.25313G>A | F2 | Modifier | Thromboembolism | NG_008953.1 | 25313 |
| 3117 | rs5361 | N/A | NG_012124.1:g.7161A>C | SELE | Modifier | Thromboembolism | NG_012124.1 | 7161 |
| 3122 | rs10421768 | N/A | NG_011563.1:g.4490A>G | HAMP | Modifier | Increased serum ferritin, Increased liver iron level, Anaemia | NG_011563.1 | 4490 |
| 3121 | rs7385804 | N/A | NG_007989.1:g.8204G>T | TFR2 | Modifier | Decreased serum ferritin | NG_007989.1 | 8204 |
| 3120 | rs1799945 | N/A | NG_008720.2:g.8671C>G | HFE | Modifier | Increased serum iron, Elevated transferrin saturation, Increased serum ferritin | NG_008720.2 | 8671 |
| 3118 | rs1613662 | N/A | NG_031963.2:g.18038C>T | GP6 | Modifier | Thromboembolism | NG_031963.2 | 18038 |
| 3124 | rs747259055 | N/A | NG_009813.1:g.82497G>A | PROS1 | Modifier | Thromboembolism | NG_009813.1 | 82497 |
| 3125 | rs5877 | N/A | NG_012462.1:g.12655A>G | SERPINC1 | Modifier | Thromboembolism | NG_012462.1 | 12655 |
| 3329 | rs2227617 | N/A | NG_012462.1:g.17458C>T | SERPINC1 | Modifier | Pulmonary arterial hypertension | NG_012462.1 | 17458 |
| 3123 | rs10904850 | N/A | NG_008967.1:g.179110C>T | CUBN | Modifier | Anaemia | NG_008967.1 | 179110 |
| 3210 | rs111265129 | N/A | NG_008967.1:g.283485A>G | CUBN | Modifier | Abnormal GFR | NG_008967.1 | 283485 |
| 3119 | rs13146272 | N/A | NG_007965.1:g.12538C>A | CYP4V2 | Modifier | Thromboembolism | NG_007965.1 | 12538 |
| 3126 | rs61743453 | N/A | NG_001332.2:g.46438G>C | SALL2 | Modifier | Hb F response to hydroxyurea | NG_051069.1 | 46438 |
| 3129 | rs2273668 | N/A | NG_029518.1:g.97190C>A | SESN1 | Modifier | Hb F response to hydroxyurea | NG_029518.1 | 97190 |
| 3131 | rs61749462 | N/A | NG_012324.1:g.24715C>A | NG_012324.1:g.24715C>T | KRT80 | Modifier | Hb F response to hydroxyurea | NG_012324.1 | 24715 |
| 3136 | rs2606345 | N/A | NG_008431.1:g.7294C>A | CYP1A1 | Modifier | Response to deferasirox | NG_008431.2 | 7294 |
| 3134 | rs762551 | N/A | NG_008431.1:g.32035C>A | CYP1A2 | Modifier | Response to deferasirox | NG_008431.2 | 32035 |
| 3135 | rs2470890 | N/A | NG_008431.1:g.37544C>T | NG_008431.1:g.37544C= | CYP1A2 | Modifier | Response to deferasirox | NG_008431.2 | 37544 |
| 3137 | rs2273697 | N/A | NG_011798.1:g.26353G>A | ABCC2 | Modifier | Response to deferasirox | NG_011798.1 | 26353 |
| 2116 | rs6630120 | N/A | NC_000023.11:g.25718363A>G | RANBP1P1-MAGEB18 | Modifier | F-cell numbers | N/A | |
| 2119 | rs12103880 | N/A | NC_000017.11:g.9795025G>A | DHRS7C-GLP2R | Modifier | Hb F levels, Hb F response to hydroxyurea | N/A | |
| 2603 | rs648464 | N/A | NC_000013.11:g.33093328G>A | STARD13 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2678 | rs8007267 | N/A | NC_000014.9:g.54912273C>T | GCH1 | Modifier | Pain | N/A | |
| 2679 | rs17728960 | N/A | NC_000020.11:g.51513177T>C | NFATC2 | Modifier | Acute chest syndrome | N/A | |
| 2746 | rs7985485 (hCV3118898) | N/A | NC_000013.11:g.32786336C>A | PDS5B | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis | N/A | |
| 2751 | rs7170421 (hCV11770326) | N/A | NC_000015.10:g.60341947C>G | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2752 | rs7170178 | N/A | NC_000015.10:g.60341655G>A | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2753 | rs1033028 | N/A | NC_000015.10:g.60324736T>G | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2754 | rs11853426 (hCV26910500) | N/A | NC_000015.10:g.60317231C>T | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis, Stroke | N/A | |
| 2758 | rs9920494 (hCV1571628) | N/A | NC_000015.10:g.60313715T>G | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2760 | rs270393 | N/A | NC_000006.12:g.7768619G>C | BMP6 | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis | N/A | |
| 2761 | rs267196 | N/A | NC_000006.12:g.7849102T>A | BMP6 | Modifier | Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension | N/A | |
| 2762 | rs267201 | N/A | NC_000006.12:g.7853358A>G | BMP6 | Modifier | Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension | N/A | |
| 2763 | rs1225934 | N/A | NC_000006.12:g.7877186A>C | BMP6 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2764 | rs3812163 | N/A | NC_000006.12:g.7725527A>T | BMP6 | Modifier | Osteonecrosis/Avascular necrosis | N/A | |
| 2766 | rs10244884 | N/A | NC_000007.14:g.30932180T>C | AQP1 | Modifier | Priapism | N/A | |
| 2767 | rs3768780 | N/A | NC_000002.12:g.186613773A>G | ITGAV | Modifier | Priapism | N/A | |
| 2768 | rs219825 | N/A | NC_000007.14:g.99047942C>G | SMURF1 | Modifier | Leg ulcers | N/A | |
| 2769 | rs736839 | N/A | NC_000018.10:g.49001695C>T | SMAD7 | Modifier | Acute chest syndrome, Leg ulcers | N/A | |
| 2770 | rs3847859 | N/A | NC_000012.12:g.51899716G>A | ACVRL1 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2771 | rs267192 | N/A | NC_000006.12:g.7845011C>T | BMP6 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2775 | rs1122109 | N/A | NC_000017.11:g.44807170C>A | GJC1 | Modifier | Hb F levels | N/A | |
| 2776 | rs2108393 | N/A | NC_000017.11:g.44803385C>T | GJC1 | Modifier | Hb F levels | N/A | |
| 2777 | rs776717 | N/A | NC_000015.10:g.42109454T>C | PLA2G4D-PLA2G4F | Modifier | Hb F levels | N/A | |
| 2787 | rs4808793 | N/A | NC_000019.10:g.18383027G>C | GDF15 | Modifier | Abnormal hepcidin level | N/A | |
| 2791 | rs840716 | N/A | NC_000011.10:g.4932232G>T | OR51G1-OR51A3P | Modifier | Hb F levels | N/A | |
| 2796 | rs1391619 | N/A | NC_000011.10:g.5434699G>A | OR51B5 | Modifier | Hb F levels | N/A | |
| 2797 | rs7937649 | N/A | NC_000011.10:g.5201149G>A | OR51V1 | Modifier | Hb F levels | N/A | |
| 2798 | rs10837540 | N/A | NC_000011.10:g.5193183T>A | OR52Z1-OR51V1 | Modifier | Hb F levels | N/A | |
| 2829 | rs5006884 | N/A | NC_000011.10:g.5352021C>T | OR51B6 | Modifier | Hb F levels, Acute chest syndrome | N/A | |
| 2830 | rs4910755 | N/A | NC_000011.10:g.5351521A>C | OR51B6 | Modifier | Hb F levels | N/A | |
| 2831 | rs4910756 | N/A | NC_000011.10:g.5351626A>G | OR51B6 | Modifier | Hb F levels | N/A | |
| 2832 | rs7483122 | N/A | NC_000011.10:g.5351776T>C | OR51B6 | Modifier | Hb F levels | N/A | |
| 2833 | rs5006883 | N/A | NC_000011.10:g.5352081T>C | OR51B6 | Modifier | Hb F levels | N/A | |
| 2834 | rs5024042 | N/A | NC_000011.10:g.5352332C>A | OR51B6 | Modifier | Hb F levels | N/A | |
| 2835 | rs10500635 | N/A | NC_000011.10:g.5365438G>A | OR51B5 | Modifier | Hb F levels | N/A | |
| 2836 | rs416586 | N/A | NC_000011.10:g.5472327A>G | OR51B5 | Modifier | Hb F levels | N/A | |
| 2868 | rs11037191 | N/A | NC_000011.10:g.5390842A>G | OR51B5 | Modifier | Hb F levels | N/A | |
| 2873 | rs11036238 | N/A | NC_000011.10:g.5204405G>C | OR51V1-HBB | Modifier | Hb F levels | N/A | |
| 2875 | rs10836955 | N/A | NC_000011.10:g.4924401G>A | OR51G1 | Modifier | Hb F levels | N/A | |
| 2877 | rs2340653 | N/A | NC_000011.10:g.5430531G>A | OR51B5 | Modifier | Hb F levels | N/A | |
| 2878 | rs2647579 | N/A | NC_000011.10:g.5419057A>G | OR51B5 | Modifier | Hb F levels | N/A | |
| 2879 | rs7951206 | N/A | NC_000011.10:g.4590424G>A | OR52I2-OR52I1 | Modifier | Hb F levels | N/A | |
| 2880 | rs888082 | N/A | NC_000002.12:g.60402474G>A | LOC102724142 | Modifier | Hb F levels | N/A | |
| 2881 | rs12286144 | N/A | NC_000011.10:g.5521789T>C | OLFM5P | Modifier | Hb F levels | N/A | |
| 2882 | rs12802922 | N/A | NC_000011.10:g.4914380C>T | OR51G2 | Modifier | Hb F levels | N/A | |
| 2883 | rs4821469 | N/A | NC_000022.11:g.36220399T>C | APOL4-APOL2 | Modifier | Focal segmental glomerulosclerosis | N/A | |
| 2884 | rs4821475 | N/A | NC_000022.11:g.36273049C>T | APOL1-MYH9 | Modifier | Focal segmental glomerulosclerosis | N/A | |
| 2886 | rs243027 | N/A | NC_000002.12:g.60379872T>G | MIR4432HG | Modifier | F-cell numbers | N/A | |
| 2887 | rs243081 | N/A | NC_000002.12:g.60386641G>A | MIR4432HG | Modifier | F-cell numbers | N/A | |
| 2888 | rs2179288 | N/A | NC_000006.12:g.136368292A>G | MAP7 | Modifier | Hb F levels | N/A | |
| 2889 | rs2076192 | N/A | NC_000006.12:g.136377559C>A | MAP7 | Modifier | Hb F levels | N/A | |
| 2890 | rs3778314 | N/A | NC_000006.12:g.136516923T>C | MAP7 | Modifier | Hb F levels | N/A | |
| 2896 | rs3027045 | N/A | NC_000001.11:g.159212305C>T | ACKR1 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2898 | rs10492226 | N/A | NC_000012.12:g.96010211T>A | LTA4H | Modifier | Pulmonary arterial hypertension | N/A | |
| 2899 | rs1978331 | N/A | NC_000012.12:g.96015423A>G | LTA4H | Modifier | Pulmonary arterial hypertension | N/A | |
| 2919 | rs2295644 | N/A | NC_000014.9:g.67599842A>T | ARG2 | Modifier | Hb F response to hydroxyurea | N/A | |
| 2924 | rs4786504 | N/A | NC_000016.10:g.4487692T>C | HMOX2 | Modifier | Anaemia | N/A | |
| 2930 | rs3732410 (Y1212C) | N/A | NC_000003.12:g.121696873T>C | GOLGB1 | Modifier | Stroke | N/A | |
| 2933 | rs799813 | N/A | NC_000002.12:g.154354666C>G | GALNT13 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2934 | rs10497120 | N/A | NC_000002.12:g.153513398A>C | GALNT13 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2935 | rs13407922 | N/A | NC_000002.12:g.154425285G>A | GALNT13 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2936 | rs16833378 | N/A | NC_000002.12:g.153515514A>G | GALNT13 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2937 | rs9808145 | N/A | NC_000002.12:g.154425689T>A | GALNT13 | Modifier | Pulmonary arterial hypertension | N/A | |
| 2938 | rs7208480 | N/A | NC_000017.11:g.15770470C>T | ADORA2B | Modifier | Pulmonary arterial hypertension | N/A | |
| 2939 | rs2794452 | N/A | NC_000001.11:g.203468576T>C | PRELP | Modifier | Pulmonary arterial hypertension | N/A | |
| 3127 | rs141631682 | N/A | NC_000014.9:g.99865589G>A | EML1 | Modifier | Hb F response to hydroxyurea | N/A | |
| 3128 | rs17126352 | N/A | NC_000014.9:g.73254537G>A | PAPLN | Modifier | Hb F response to hydroxyurea | N/A | |
| 3130 | rs61746132 | N/A | NC_000004.12:g.154235260G>A | DCHS2 | Modifier | Hb F response to hydroxyurea | N/A | |
| 3132 | rs61742645 | N/A | NC_000007.14:g.156969123C>T | NOM1 | Modifier | Hb F response to hydroxyurea | N/A | |
| 3151 | rs10756993 | N/A | NC_000009.12:g.18839726A>C | ADAMTSL1 | Modifier | Hb F levels | N/A | |
| 3152 | rs62573842 | N/A | NC_000009.12:g.32264314A>G | HMGB3P23-RNA5SP281 | Modifier | Hb F levels | N/A | |
| 3154 | rs7163278 | N/A | NC_000015.10:g.93345162T>C | LOC105370982 | Modifier | Hb F levels | N/A | |
| 3155 | rs10468869 | N/A | NW_003315959.1:g.26240C>T | LOC100422053-RPS8P3 | Modifier | Hb F levels | N/A | |
| 3156 | rs28567737 | N/A | NC_000019.10:g.46027961T>C | LOC105372421 | Modifier | Hb F levels | N/A | |
| 3173 | rs11072544 | N/A | NC_000015.10:g.75373740G>A | SIN3A | Modifier | Hb F levels | N/A | |
| 3174 | rs7166737 | N/A | NC_000015.10:g.75390172A>G | SIN3A | Modifier | Hb F response to hydroxyurea | N/A | |
| 3181 | rs141006889 | N/A | NC_000016.10:g.88534873A>G | FOG1 | Modifier | Anaemia | N/A | |
| 3196 | rs1478605 | N/A | NC_000015.10:g.39581083G>A | THBS1 | Modifier | Pulmonary arterial hypertension | N/A | |
| 3197 | rs10877969 | N/A | NC_000012.12:g.63153459T>C | AVPR1A | Modifier | Pain | N/A | |
| 3220 | rs4713339 | N/A | NC_000006.12:g.11287099C>T | NEDD9 | Modifier | Hb F levels | N/A | |
| 3285 | rs11759328 | N/A | NC_000006.12:g.129691228C>T | ARHGAP18 | Modifier | Hb F levels | N/A | |
| 3300 | rs6777055 | N/A | NC_000003.12:g.55039890A>C | CACNA2D3 | Modifier | Vaso-occlusive crisis | N/A | |
| 3304 | rs734784 | N/A | NC_000020.11:g.45094986T>C | KCNS1 | Modifier | Vaso-occlusive crisis | N/A | |
| 3347 | rs10499052 | N/A | NC_000006.12:g.109564272G>A | AK9 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | N/A | |
| 3579 | rs3115229 | N/A | NC_000004.12:g.122088578T>C | TRPC3-KIAA1109 | Modifier | Vaso-occlusive crisis | N/A | |
| 3637 | rs11968814 | N/A | NC_000006.12:g.71067268G>A | B3GAT2-BECN1P2 | Modifier | F-cell numbers | N/A | |
| 3639 | rs10017284 | N/A | NC_000004.12:g.120592060A>G | SAR1AP3-PRDM5 | Modifier | F-cell numbers | N/A | |
| 3641 | rs1845344 | N/A | NC_000004.12:g.120041230G>T | PDE5A-MAD2L1 | Modifier | F-cell numbers | N/A | |
| 3643 | rs2577720 | N/A | NC_000002.12:g.23325743A>C | LOC107985792-KLHL29 | Modifier | F-cell numbers | N/A | |
| 3644 | rs17135859 | N/A | NC_000005.10:g.113660957T>C | YTHDC2-KCNN2 | Modifier | F-cell numbers | N/A | |
| 3645 | rs16914695 | N/A | NC_000009.12:g.29336305A>G | PDK1P1-ME2P1 | Modifier | F-cell numbers | N/A | |
| 3648 | rs830868 | N/A | NC_000005.10:g.52622080G>T | MFSD4BP1-ITGA1 | Modifier | F-cell numbers | N/A | |
| 3658 | rs1949857 | N/A | NC_000007.14:g.71006906C>T | AUTS2-GALNT17 | Modifier | F-cell numbers | N/A | |
| 3659 | rs9304395 | N/A | NC_000018.10:g.50309414G>T | CXXC1-RNA5SP458 | Modifier | F-cell numbers | N/A | |
| 3660 | rs4395533 | N/A | NC_000004.12:g.120560795G>A | SAR1AP3-PRDM5 | Modifier | F-cell numbers | N/A | |
| 3662 | rs6891834 | N/A | NC_000005.10:g.171841199C>T | LOC107986476 | Modifier | F-cell numbers | N/A | |
| 3664 | rs10439027 | N/A | NC_000018.10:g.62620051T>C | ZCCHC2-RN7SL705P | Modifier | F-cell numbers | N/A | |
| 3666 | rs2954930 | N/A | NC_000012.12:g.11899768G>A | ETV6-BCL2L14 | Modifier | F-cell numbers | N/A | |
| 3669 | rs1442080 | N/A | NC_000018.10:g.53658224G>A | RPL29P32-MBD2 | Modifier | F-cell numbers | N/A | |
| 3670 | rs584297 | N/A | NC_000001.11:g.226520780T>C | LOC105373115 | Modifier | F-cell numbers | N/A | |
| 3810 | rs3759073 | N/A | NG_000007.3:g.60581A>G | HBD-HBBP1 | Modifier | Severity | N/A | |
| 3829 | rs366257 | N/A | NC_000011.10:g.5469313C>T | OR51B5 | Modifier | Severity | N/A | |
| 3830 | rs446541 | N/A | NC_000011.10:g.5471070A>T | OR51B5 | Modifier | Severity | N/A | |
| 3831 | rs2030090 | N/A | NC_000011.10:g.5452863A>G | OR51I2 | Modifier | Severity | N/A | |
| 3832 | rs3886223 | N/A | NC_000011.10:g.5322517G>T | OR51B3P-OR51B2 | Modifier | Severity | N/A | |
| 3858 | rs1406811 | N/A | NC_000006.12:g.135118989A>C | HBS1L-MYB | Modifier | Hb F levels | N/A | |
| 3908 | rs201658643 | N/A | NC_000022.11:g.34468965_34468966dup | LOC105373012-LOC441996 | Modifier | Stroke | N/A | |
| 3909 | rs10142478 | N/A | NC_000014.9:g.21481668C>A | TOX4 | Modifier | Stroke | N/A | |
| 3979 | PUM1:p.H1090Pfs*16 | N/A | NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del | PUM1 | Modifier | Hb F levels | N/A | |
| 3999 | rs9315599 | N/A | NC_000013.11:g.20463469C>G | CRYL1 | Modifier | Proteinuria | N/A | |
| 4003 | rs4903539 | N/A | NC_000014.9:g.77066345T>G | LINC02288 | Modifier | Abnormal GFR | N/A | |
| 4004 | rs7526762 | N/A | NC_000001.11:g.74527634A>G | FPGT-TNNI3K | Modifier | Abnormal GFR | N/A | |
| 4050 | rs766003 | N/A | NC_000009.12:g.69865524G>A | CFAP95 | Modifier | Severity | N/A | |
| 4053 | rs6443662 | N/A | NC_000003.12:g.179633577C>T | NDUFB5-USP13 | Modifier | Severity | N/A | |
| 4056 | rs234915 | N/A | NC_000006.12:g.2209343T>G | GMDS | Modifier | Severity | N/A | |
| 3519 | rs11859733 | N/A | NC_000016.10:g.58297869T>C | PRSS54-RNU6-269P | Modifier | Abnormal red blood cell count | N/A | 0 |
| 3520 | rs8070454 | N/A | NC_000017.11:g.40004501C>T | PSMD3-CSF3 | Modifier | Abnormal white blood cell count | N/A | 0 |
| 3526 | rs9760319 | N/A | NC_000004.12:g.137491375A>G | RPS23P2-PCDH18 | Modifier | Abnormal white blood cell count | N/A | 0 |
| 3531 | rs9277053 | N/A | NC_000006.12:g.33038445G>A | HLA-DOA-HLA-DPA1 | Modifier | Abnormal platelet count | N/A | 0 |
| 3541 | rs7938426 | N/A | NC_000011.10:g.5450602A>G | OR51B5 | Modifier | Haemolytic anaemia | N/A | 0 |
| 3542 | rs7948471 | N/A | NC_000011.10:g.5450516G>A | OR51B5 | Modifier | Haemolytic anaemia | N/A | 0 |
| 3544 | rs1526083 | N/A | NG_050579.1:g.9354A>G | PIK3CG | Modifier | Acute chest syndrome | N/A | 0 |
| 3545 | rs12536620 | N/A | NG_050579.1:g.44506A>G | PIK3CG | Modifier | Acute chest syndrome | N/A | 0 |
| 2591 | rs7163836 | N/A | NC_000015.10:g.60348029C>T | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis | N/A | 0 |
| 2611 | rs2148322 | N/A | NC_000001.11:g.91656775A>C | TGFBR3 | Modifier | Stroke | N/A | 0 |
| 3475 | rs1176758 | N/A | NC_000011.10:g.113899633G>A | HTRB3 | Modifier | Acute chest syndrome | N/A | 0 |
| 3477 | rs9927848 | N/A | NC_000016.10:g.23821750C>A | CHP2-PRKCB | Modifier | Acute chest syndrome | N/A | 0 |
| 3479 | rs6141803 | N/A | NC_000020.11:g.32752550T>C | COMMD7-DNMT3B | Modifier | Acute chest syndrome | N/A | 0 |
| 3139 | rs60684937 | N/A | NC_000017.11:g.69422989T>C | MAP2K6 | Modifier | EPO levels | NG_029437.1 | 0 |
| 3143 | rs4644 (+191 (CCT>CAT) [Pro>His]) | N/A | NG_017089.1:g.14001C>A | LGALS3 | Modifier | Recurrent respiratory infections | NG_017089.1 | 14001 |
| 3144 | rs4652 (+292 ACT>CCT [Thr>Pro]) | N/A | NG_017089.1:g.14102A>C | LGALS3 | Modifier | Vaso-occlusive crisis, Recurrent respiratory infections | NG_017089.1 | 14102 |
| 3145 | rs1984112 | N/A | NG_008192.1:g.16417A>G | CD36 | Modifier | Vaso-occlusive crisis, Reticulocytosis | NG_008192.1 | 16417 |
| 3146 | rs1800587 | N/A | NG_008850.1:g.5012C>T | ILA1 | Modifier | Pain | NG_008850.1 | 5012 |
| 3150 | rs6466533 | N/A | NG_011487.1:g.294999A>G | MAGI2 | Modifier | Hb F levels | NG_011487.1 | 294999 |
| 3153 | rs6590706 | N/A | NG_012107.1:g.72498C>T | OPCML | Modifier | Hb F levels | NG_012107.1 | 72498 |
| 3157 | rs45496295 | N/A | NG_009617.1:g.6420G>A | CEBPE | Modifier | Anaemia | NG_009617.1 | 6420 |
| 3172 | rs4527238 | N/A | NG_012649.1:g.84516T>C | ANTXR1 | Modifier | Hb F levels | NG_012649.1 | 84516 |
| 3263 | rs35685045 | N/A | NG_012649.1:g.90541C>T | ANTXR1 | Modifier | Hb F levels | NG_012649.1 | 90541 |
| 3176 | rs9496646 | N/A | NG_027676.1:g.16974T>C | FUCA2 | Modifier | Left ventricular diastolic dysfunction | NG_027676.1 | 16974 |
| 3178 | rs2010963 (-634G/C) | N/A | NG_008732.1:g.5398C>G | VEGFA | Modifier | Vaso-occlusive crisis | NG_008732.1 | 5398 |
| 3179 | rs833068 (G398A) | N/A | NG_008732.1:g.9575G>A | VEGFA | Modifier | Vaso-occlusive crisis | NG_008732.1 | 9575 |
| 3339 | rs2146323 | N/A | NG_008732.1:g.12143C>A | VEGFA | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_008732.1 | 12143 |
| 3338 | rs3024997 | N/A | NG_008732.1:g.12155G>A | VEGFA | Modifier | Hb F levels | NG_008732.1 | 12155 |
| 3177 | rs3025020 | N/A | NG_008732.1:g.16158C>T | VEGFA | Modifier | Vaso-occlusive crisis | NG_008732.1 | 16158 |
| 3182 | rs113267280 | N/A | NG_041939.1:g.69122A>C | CCND3 | Modifier | Anaemia | NG_041939.1 | 69122 |
| 3493 | rs3218108 | N/A | NG_041939.1:g.118978G>A | CCND3 | Modifier | Abnormal red blood cell count | NG_041939.1 | 118978 |
| 3186 | rs183437571 | N/A | NG_032925.2:g.20316C>T | NFIX | Modifier | Hb F levels | NG_032925.2 | 20316 |
| 3193 | rs148706947 | N/A | NG_012267.1:g.65247G>A | AXIN1 | Modifier | Anaemia | NG_012267.1 | 65247 |
| 3580 | rs1050828 | N/A | NG_009015.2:g.16571G>A | G6PD | Modifier | Stroke | NG_009015.2 | 16571 |
| 3581 | rs1050829 | N/A | NG_009015.2:g.17296A>T | NG_009015.2:g.17296A>G | G6PD | Modifier | Stroke | NG_009015.2 | 17296 |
| 3195 | rs5030868 | N/A | NG_009015.2:g.18154C>T | G6PD | Modifier | Anaemia | NG_009015.2 | 18154 |
| 3207 | rs76056952 | N/A | NG_033236.1:g.77856G>C | PKD1L2 | Modifier | Abnormal GFR | NG_033236.1 | 77856 |
| 3208 | rs114990094 | N/A | NG_030463.1:g.8143C>T | TOR2A | Modifier | Abnormal GFR | NG_030463.1 | 8143 |
| 3209 | rs72765108 | N/A | NG_027822.1:g.11259G>T | AGGF1 | Modifier | Abnormal GFR | NG_027822.1 | 11259 |
| 3211 | rs12094024 | N/A | NG_007939.1:g.21183A>C | CYP4B1 | Modifier | Abnormal GFR | NG_007939.1 | 21183 |
| 3212 | rs61729510 | N/A | NG_029826.1:g.21020G>A | CD163 | Modifier | Abnormal GFR | NG_029826.1 | 21020 |
| 3585 | rs980112 | N/A | NG_033271.1:g.7618G>A | KLF10 | Modifier | Hb F levels | NG_033271.1 | 7618 |
| 3550 | rs3191333 | N/A | NG_033271.1:g.10912C>T | KLF10 | Modifier | Hb F levels, Response to hydroxyurea | NG_033271.1 | 10912 |
| 3213 | rs764833434 (R218Q) | N/A | NG_030361.1:g.7406G>A | SP1 | Modifier | Hb F levels | NG_030361.1 | 7406 |
| 3219 | rs557939075 | N/A | NG_009929.2:g.459084_459085insA | LARGE1 | Modifier | Hb F levels | NG_009929.2 | 459084 |
| 3221 | rs13080125 | N/A | NG_009227.1:g.82390T>C | PAK2 | Modifier | Hb F levels | NG_009227.1 | 82390 |
| 3245 | rs4696480 | N/A | NG_016229.1:g.6686T>A | TLR2 | Modifier | Recurrent respiratory infections | NG_016229.1 | 6686 |
| 3254 | rs5742909 (-318 C/T) | N/A | NG_011502.1:g.4839C>T | CTLA4 | Modifier | Red blood cell alloimmunisation | NG_011502.1 | 4839 |
| 3257 | rs231841 | N/A | NG_008935.1:g.262384G>T | KCNQ1 | Modifier | Anaemia | NG_008935.1 | 262384 |
| 3259 | rs2333227 (-463G>A) | N/A | NG_009629.1:g.4535G>A | MPO | Modifier | Recurrent infections | NG_009629.1 | 4535 |
| 3551 | FCGR2C.nc-ORF | N/A | NG_011982.1:g.[13259C>T;19253A>G] | FCGR2C | Modifier | Red blood cell alloimmunisation | NG_011982.1 | 13259, 19253 |
| 3303 | rs4274224 | N/A | NG_008841.1:g.31550C>T | DRD2 | Modifier | Vaso-occlusive crisis | NG_008841.1 | 31550 |
| 3328 | rs165599 | N/A | NC_000022.11:g.19969258G>A | COMT | Modifier | Pain | NG_011526.1 | 32519 |
| 3348 | rs73599293 | N/A | NG_008678.1:g.625121A>G | LAMA2 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | NG_008678.1 | 625121 |
| 2677 | rs1319868 | N/A | NC_000015.10:g.98643750G>T | IGF1R | Modifier | Bacteremia | NG_046911.1 | 0 |
| 3351 | rs2271725 | N/A | NG_046911.1:g.119852C>A | ITGA11 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | NG_046911.1 | 119852 |
| 3355 | rs34544747 | N/A | NG_008318.1:g.14743G>T | MAN2B1 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | NG_008318.1 | 14743 |
| 3349 | rs920829 | N/A | NG_033890.1:g.15117G>A | TRPA1 | Modifier | Pain | NG_033890.1 | 15117 |
| 3352 | rs951781 | N/A | NG_012300.1:g.10653G>A | NES | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count | NG_012300.1 | 10653 |
| 3438 | rs12568784 | N/A | NC_000001.11:g.152350656G>T | FLG2 | Modifier | Leg ulcers | NM_001014342.2 | 7130 |
| 3447 | rs35108810 | N/A | NC_000013.11:g.32443800T>A | N4BP2L2 | Modifier | Hb F response to hydroxyurea | NM_033111.4 | 0 |
| 3448 | rs16955011 | N/A | NC_000013.11:g.98176963C>T | RNF113B | Modifier | Hb F response to hydroxyurea | NM_178861.5 | 0 |
| 3449 | rs55904231 | N/A | NC_000007.14:g.2239684G>A | MRM2 | Modifier | Hb F response to hydroxyurea | NM_013393.3 | 0 |
| 3450 | rs28626308 | N/A | NC_000019.10:g.33026609C>T | RHPN2 | Modifier | Hb F response to hydroxyurea | NM_033103.5 | 0 |
| 3451 | rs17843865 | N/A | NG_011844.2:g.38134A>G | ADAR | Modifier | Hb F response to hydroxyurea | NG_011844.2 | 38134 |
| 3452 | rs61750777 | N/A | NG_051819.1:g.5672C>T | RSPH3 | Modifier | Hb F response to hydroxyurea | NG_051819.1 | 5672 |
| 3453 | rs11053646 | N/A | NG_016743.1:g.16343G>C | OLR1 | Modifier | Hb F response to hydroxyurea | NG_016743.1 | 16343 |
| 3454 | rs11819496 | N/A | NC_000010.11:g.100499576C>G | SEC31B | Modifier | Hb F response to hydroxyurea | NM_015490.4 | 0 |
| 3455 | rs34510432 | N/A | NC_000019.10:g.18911007C>T | COPE | Modifier | Hb F response to hydroxyurea | NM_001330469.2 | 0 |
| 3456 | rs6967330 | N/A | NC_000007.14:g.106018005G>A | CDHR3 | Modifier | Hb F response to hydroxyurea | NM_152750.5 | 0 |
| 3457 | rs3770655 | N/A | NC_000002.12:g.67404993C>T | ETAA1 | Modifier | Hb F response to hydroxyurea | NM_019002.4 | 0 |
| 3458 | rs113596156 | N/A | NC_000001.11:g.1179319G>A | TTLL10 | Modifier | Hb F response to hydroxyurea | NM_001130045.2 | 0 |
| 3459 | rs869801 | N/A | NG_033919.2:g.546967G>A | DOCK1 | Modifier | Hb F response to hydroxyurea | NG_033919.2 | 546967 |
| 3460 | rs899441 | N/A | NG_047119.1:g.14532A>G | MYBBP1A | Modifier | Hb F response to hydroxyurea | NG_047119.1 | 14532 |
| 3461 | rs116835087 | N/A | NC_000017.11:g.62736109C>T | MARCHF10 | Modifier | Hb F response to hydroxyurea | NM_001288779.2 | 0 |
| 3462 | rs11972142 | N/A | NG_052801.1:g.73041A>G | PKD1L1 | Modifier | Hb F response to hydroxyurea | NG_052801.1 | 73041 |
| 3463 | rs16859886 | N/A | NG_016139.1:g.22583C>T | ADCY10 | Modifier | Hb F response to hydroxyurea | NG_016139.1 | 22583 |
| 3466 | rs10399947 | N/A | NC_000001.11:g.150889484G>A | CTXND2 | Modifier | Acute chest syndrome | NR_148929.1 | 0 |
| 3467 | rs34661029 | N/A | NC_000002.12:g.60921853C>G | REL | Modifier | Acute chest syndrome | NM_002908.4 | 0 |
| 3468 | rs17749316 | N/A | NG_008294.1:g.43268G>C | STAT1 | Modifier | Acute chest syndrome | NG_008294.1 | 43268 |
| 3469 | rs13021001 | N/A | NG_042235.1:g.34942T>C | GPR17 | Modifier | Acute chest syndrome | NM_001161415.1 | 34942 |
| 3471 | rs3910551 | N/A | NG_029729.1:g.96079G>C | ALCAM | Modifier | Acute chest syndrome | NG_029729.1 | 96079 |
| 3472 | rs5030094 | N/A | NG_016009.1:g.31061T>C | KNG1 | Modifier | Acute chest syndrome | NG_016009.1 | 31061 |
| 3473 | rs10478813 | N/A | NG_008750.1:g.47471C>G | FBN2 | Modifier | Acute chest syndrome | NG_008750.1 | 47471 |
| 3474 | rs5576 | N/A | NG_016148.1:g.12545A>G | NPY | Modifier | Acute chest syndrome | NG_016148.1 | 12545 |
| 3476 | rs6309 | N/A | NG_013011.1:g.5570T>A | HTR2A | Modifier | Acute chest syndrome | NG_013011.1 | 5570 |
| 3478 | rs12447481 | N/A | NG_012969.1:g.16095T>G | FTO | Modifier | Acute chest syndrome | NG_012969.1 | 16095 |
| 3508 | rs9933611 | N/A | NG_012969.1:g.41011A>G | FTO | Modifier | Pain | NG_012969.1 | 41011 |
| 3480 | rs16998437 | N/A | NG_012857.1:g.401T>G | NOL12 | Modifier | Acute chest syndrome | NM_024313.3 | 401 |
| 3497 | rs3917296 | N/A | NC_000002.12:g.102168373A>G | IL1R1 | Modifier | Pain | NM_000877.4 | 0 |
| 3498 | rs324035 | N/A | NG_008842.2:g.54401T>G | DRD3 | Modifier | Pain | NG_008842.2 | 54401 |
| 3499 | rs10513478 | N/A | NC_000003.12:g.155522876C>T | PLCH1 | Modifier | Pain | NM_001130960.2 | 0 |
| 3500 | rs11732673 | N/A | NC_000004.12:g.2681328A>G | FAM193A | Modifier | Pain | NM_003704.3 | 0 |
| 3501 | rs6858735 | N/A | NC_000004.12:g.37914606C>T | TBC1D1 | Modifier | Pain | NM_015173.4 | 0 |
| 3502 | rs13113915 | N/A | NC_000004.12:g.186544810G>A | MTNR1A | Modifier | Pain | NM_005958.4 | 0 |
| 3503 | rs10942625 | N/A | NG_007083.2:g.590532G>A | ADGRV1 | Modifier | Pain | NG_007083.2 | 590532 |
| 3504 | rs1851426 | N/A | NG_008421.1:g.3873T>C | CYP3A4 | Modifier | Pain | NG_008421.1 | 3873 |
| 3505 | rs7034457 | N/A | NG_029445.1:g.117539A>G | PCSK5 | Modifier | Pain | NG_029445.1 | 117539 |
| 3506 | rs7899453 | N/A | NG_012633.1:g.11442C>A | RPS24 | Modifier | Pain | NG_012633.1 | 11442 |
| 3507 | rs11817401 | N/A | NG_029120.1:g.95564G>A | SORCS1 | Modifier | Pain | NG_029120.1 | 95564 |
| 3509 | rs17101814 | N/A | NC_000011.10:g.103991948 | PDGFD | Modifier | Pain | NM_033135.4 | 0 |
| 3510 | rs445683 | N/A | NC_000017.11:g.76405440C>T | UBE2O | Modifier | Pain | NM_022066.4 | 0 |
| 3511 | rs7507634 | N/A | NC_000019.10:g.10325886C>T | RAVER1 | Modifier | Pain | NM_133452.3 | 0 |
| 3512 | rs2872817 | N/A | NG_028264.1:g.39392A>G | TKTL1 | Modifier | Pain | NG_028264.1 | 39392 |
| 3515 | rs8176743 | N/A | NG_006669.2:g.24188G>A | ABO | Modifier | Abnormal red blood cell count | NG_006669.2 | 24188 |
| 3516 | rs2218660 | N/A | NC_000002.12:g.46120653T>G | PRKCE | Modifier | Abnormal Hb, Abnormal haematocrit, Abnormal red blood cell count | NM_005400.3 | 0 |
| 3517 | rs11153167 | N/A | NC_000006.12:g.109301379A>T | CCDC162P | Modifier | Abnormal red blood cell count | NR_152435.1 | 0 |
| 3518 | rs2523554 | N/A | NG_001113.6:g.3014G>A | DHFRP2 | Modifier | Abnormal Hb | NG_001113.6 | 3014 |
| 3521 | rs10936603 | N/A | NC_000003.12:g.169827864G>T | LRRIQ4 | Modifier | Abnormal white blood cell count | NM_001080460.2 | 0 |
| 3522 | rs11981340 | N/A | NG_015888.1:g.155282A>G | CDK6 | Modifier | Abnormal white blood cell count | NG_015888.1 | 155282 |
| 3525 | rs3729569 | N/A | NG_008958.1:g.35707C>A | MCM6 | Modifier | Abnormal white blood cell count | NG_008958.1 | 35707 |
| 3527 | rs1977081 | N/A | NG_008631.1:g.15510T>C | PNPLA3 | Modifier | Abnormal platelet count | NG_008631.1 | 15510 |
| 3528 | rs739496 | N/A | NG_021216.1:g.48908A>G | SH2B3 | Modifier | Abnormal platelet count | NG_021216.1 | 48908 |
| 3529 | rs9469032 | N/A | NC_000006.12:g.31677649C>G | LY6G5C | Modifier | Abnormal platelet count | NM_025262.3 | 0 |
| 3530 | rs13091574 | N/A | NG_012136.1:g.8828T>G | THPO | Modifier | Abnormal platelet count | NG_012136.1 | 8828 |
| 3535 | rs56381518 | N/A | NC_000010.11:g.70170483A>C | NC_000010.11:g.70170483A>G | NC_000010.11:g.70170483A>T | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | |
| 3536 | rs1479076497 | N/A | NC_000010.11:g.70151278_70151284del | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | |
| 3537 | rs1180306451 | N/A | NC_000010.11:g.70151277_70151284del | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | |
| 3538 | rs2394643 | N/A | NC_000010.11:g.70151258C>A | NC_000010.11:g.70151258C>T | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | |
| 4047 | rs1470556171 | N/A | NC_000010.11:g.70151281A>C | SAR1A | Modifier | Hb F levels | NM_001142648.2 | |
| 4048 | rs1046747 | N/A | NC_000010.11:g.70150874G>A | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | |
| 4049 | rs80028936 | N/A | NC_000010.11:g.70151213GT[1] | NC_000010.11:g.70151213GT[3] | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | |
| 3532 | rs56291099 | N/A | NC_000010.11:g.70171322G>A | SAR1A | Modifier | Hb F response to hydroxyurea | NM_001142648.2 | 0 |
| 3533 | rs56303718 | N/A | NC_000010.11:g.70170898C>A | SAR1A | Modifier | Hb F response to hydroxyurea | NM_001142648.2 | 0 |
| 3534 | rs55890525 | N/A | NC_000010.11:g.70171015C>A | SAR1A | Modifier | Hb F response to hydroxyurea | NM_001142648.2 | 0 |
| 3539 | rs115340990 | N/A | NC_000010.11:g.70151008A>G | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | 0 |
| 3540 | rs1482813291 | N/A | NC_000010.11:g.70151276_70151284del | SAR1A | Modifier | Response to hydroxyurea | NM_001142648.2 | 0 |
| 2917 | rs2310991 | N/A | NC_000010.11:g.70171890C>A | SAR1A | Modifier | Hb F response to hydroxyurea | NM_001142648.2 | 0 |
| 2918 | rs4282891 | N/A | NC_000010.11:g.70170313A>G | SAR1A | Modifier | Hb F response to hydroxyurea | NM_001142648.2 | 0 |
| 3706 | rs1160065459 | N/A | NC_000019.10:g.10148923G>A | DNMT1 | Modifier | Hb F levels | NG_028016.3 | 87364 |
| 3584 | rs2236599 | N/A | NC_000009.12:g.107487224C>T | KLF4 | Modifier | Hb F response to hydroxyurea | NM_004235.6 | |
| 3592 | rs9324918 | N/A | NG_009062.1:g.52918A>G | NR3C1 | Modifier | Pain | NG_009062.1 | 52918 |
| 3591 | rs2963155 | N/A | NG_009062.1:g.64074T>C | NR3C1 | Modifier | Pain | NG_009062.1 | 64074 |
| 3590 | rs33389 | N/A | NG_009062.1:g.119579G>A | NR3C1 | Modifier | Pain | NG_009062.1 | 119579 |
| 3618 | rs9722 | N/A | NC_000021.9:g.46599326G>A | S100B | Modifier | Pain | NM_006272.3 | |
| 3619 | rs1051169 | N/A | NC_000021.9:g.46602317C>G | S100B | Modifier | Pain | NM_006272.3 | |
| 3620 | rs9983698 | N/A | NC_000021.9:g.46598630C>T | S100B | Modifier | Pain | NM_006272.3 | |
| 3621 | rs11911834 | N/A | NC_000021.9:g.46602608G>T | S100B | Modifier | Pain | NM_006272.3 | |
| 3625 | rs2154586 | N/A | NC_000021.9:g.46603603G>A | S100B | Modifier | Osteonecrosis/Avascular necrosis | NM_006272.3 | |
| 3638 | rs1318772 | N/A | NG_012265.1:g.105961T>C | MCC | Modifier | F-cell numbers | NG_012265.1 | 105961 |
| 3640 | rs3800569 | N/A | NC_000007.14:g.138726680C>T | ATP6V0A4 | Modifier | F-cell numbers | NG_008145.1 | 76517 |
| 3642 | rs2279638 | N/A | NC_000001.11:g.220828445G>A | LINC01352 | Modifier | F-cell numbers | NR_110797.1 | |
| 3646 | rs11071959 | N/A | NG_029143.1:g.228883A>G | MAP2K5 | Modifier | F-cell numbers | NG_029143.1 | 228883 |
| 3647 | rs3850229 | N/A | NC_000006.12:g.147857222G>A | SAMD5 | Modifier | F-cell numbers | NM_001030060.3 | |
| 3649 | rs140518 | N/A | NC_000022.11:g.50560753C>T | SYCE3 | Modifier | F-cell numbers | NM_001123225.3 | |
| 3650 | rs10510789 | N/A | NC_000003.12:g.56843760C>T | ARHGEF3 | Modifier | F-cell numbers | NM_019555.3 | |
| 3656 | rs2298720 | N/A | NG_011775.4:g.48426G>A | SLC14A1 | Modifier | Response to hydroxyurea | NG_011775.4 | 48426 |
| 3655 | rs1001179 | N/A | NG_013339.2:g.4760C>T | CAT | Modifier | Response to hydroxyurea | NG_013339.2 | 4760 |
| 3654 | rs7943316 | N/A | NG_013339.2:g.5001A>T | CAT | Modifier | Response to hydroxyurea | NG_013339.2 | 5001 |
| 3661 | rs7032759 | N/A | NC_000009.12:g.131960810T>C | MED27 | Modifier | F-cell numbers | NM_004269.4 | |
| 3665 | rs2113120 | N/A | NC_000016.10:g.78654247T>C | WWOX | Modifier | F-cell numbers | NG_011698.1 | 559594 |
| 3667 | rs757369 | N/A | NC_000014.9:g.68506829A>G | RAD51B | Modifier | F-cell numbers | NG_023267.2 | 692051 |
| 3668 | rs12412148 | N/A | NG_033998.1:g.90878C>T | SVIL | Modifier | F-cell numbers | NG_033998.1 | 90878 |
| 3701 | rs9380142 | N/A | NG_029039.1:g.9039A>G | HLA-G | Modifier | Gallstones | NG_029039.1 | 9039 |
| 3702 | rs2246809 | N/A | NC_000012.12:g.10404445A>G | KLRC4-KLRK1 | Modifier | Retinopathy | NM_001199805.1 | |
| 3703 | rs2617160 | N/A | NC_000012.12:g.10392998A>T | KLRC4-KLRK1 | Modifier | Retinopathy | NM_001199805.1 | |
| 3704 | rs2617169 | N/A | NC_000012.12:g.10408225T>A | KLRC4-KLRK1 | Modifier | Retinopathy | NM_001199805.1 | |
| 3707 | rs56737264 | N/A | NC_000002.12:g.15094029A>G | NBAS | Modifier | Red blood cell alloimmunisation | NG_032964.1 | |
| 3708 | rs67088901 | N/A | NC_000002.12:g.15102159G>A | NBAS | Modifier | Red blood cell alloimmunisation | NG_032964.1 | |
| 3709 | rs75853687 | N/A | NC_000005.10:g.159850278G>A | LINC01847 | Modifier | Red blood cell alloimmunisation | NR_109891.1 | |
| 3741 | rs12275279 | N/A | NC_000011.10:g.72726251C>A | ARAP1 | Modifier | Red blood cell alloimmunisation | NM_001040118.3 | |
| 3742 | rs7123876 | N/A | NC_000011.10:g.72733538T>C | ARAP1 | Modifier | Red blood cell alloimmunisation | NM_001040118.3 | |
| 3743 | rs12289259 | N/A | NC_000011.10:g.72735686A>C | NC_000011.10:g.72735686A>G | ARAP1 | Modifier | Red blood cell alloimmunisation | NM_001040118.3 | |
| 3744 | rs12272109 | N/A | NC_000011.10:g.72742805G>A | ARAP1 | Modifier | Red blood cell alloimmunisation | NM_001040118.3 | |
| 3746 | rs7122044 | N/A | NC_000011.10:g.72751589A>G | ARAP1 | Modifier | Red blood cell alloimmunisation | NM_001040118.3 | |
| 3807 | rs483850 | N/A | NC_000001.11:g.206916626T>A | FCMR | Modifier | Severity | NM_005449.5 | |
| 3808 | rs934956 | N/A | NC_000002.12:g.104480671G>A | LINC01102 | Modifier | Severity | NR_015399.1 | |
| 3809 | rs370898 | N/A | NC_000003.12:g.21426209C>A | ZNF385D | Modifier | Severity | NM_024697.3 | |
| 3827 | rs10837774 | N/A | NC_000011.10:g.5302158G>A | OR51B4 | Modifier | Severity | NM_033179.2 | |
| 3836 | rs545537 | N/A | NC_000006.12:g.117323878C>T | ROS1 | Modifier | Severity | NG_033929.1 | 106978 |
| 3837 | rs678343 | N/A | NC_000011.10:g.65204160G>C | CAPN1 | Modifier | Severity | NG_052817.1 | |
| 3838 | rs638135 | N/A | NC_000011.10:g.86474646A>G | ME3 | Modifier | Severity | NM_006680.3 | |
| 3839 | rs632538 | N/A | NC_000011.10:g.86480651C>T | ME3 | Modifier | Severity | NM_006680.3 | |
| 3840 | rs593753 | N/A | NC_000011.10:g.72980395T>C | FCHSD2 | Modifier | Severity | NM_014824.3 | |
| 3893 | rs9533156 | N/A | NC_000013.11:g.42573535T>C | RANKL | Modifier | Reduced bone mineral density | NG_008990.1 | 15800 |
| 3895 | rs2073617 | N/A | NC_000008.11:g.118952044G>A | OPG | Modifier | Reduced bone mineral density | NG_012202.1 | 5101 |
| 3894 | rs2073618 | N/A | NC_000008.11:g.118951813G>C | OPG | Modifier | Reduced bone mineral density | NG_012202.1 | 5332 |
| 3900 | rs113276800 | N/A | NC_000002.12:g.181457493C>A | ITGA4 | Modifier | Stroke | NG_050623.1 | 5602 |
| 3899 | rs3770138 | N/A | NC_000002.12:g.181461180C>T | ITGA4 | Modifier | Stroke | NG_050623.1 | 9289 |
| 3901 | rs77635018 | N/A | NC_000006.12:g.43846990C>A | NC_000006.12:g.43846990C>G | NC_000006.12:g.43846990C>T | LINC02537 | Modifier | Priapism | NR_149142.1 | |
| 3902 | rs116116525 | N/A | NC_000006.12:g.43848086A>G | NC_000006.12:g.43848086A>T | LINC02537 | Modifier | Priapism | NR_149142.1 | |
| 3903 | rs60503510 | N/A | NC_000006.12:g.43849865C>T | LINC02537 | Modifier | Priapism | NR_149142.1 | |
| 3904 | rs190103771 | N/A | NC_000003.12:g.175698311A>G | NAALADL2 | Modifier | Priapism | NM_207015.3 | |
| 3906 | rs6930487 | N/A | NC_000006.12:g.143540230G>A | PHACTR2 | Modifier | Stroke | NM_001100164.2 | |
| 3907 | rs1557759 | N/A | NC_000005.10:g.130208414A>G | CHSY3 | Modifier | Stroke | NM_175856.5 | |
| 3910 | rs2250806 | N/A | NC_000001.11:g.84130407A>G | PRKACB | Modifier | Stroke | NG_029728.1 | |
| 3921 | rs964184 | N/A | NC_000011.10:g.116778201G>C | ZPR1 | Modifier | N/A | NM_003904.5 | |
| 3978 | rs772591609 (p.Arg7Ter) | N/A | NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T | GATAD2A | Modifier | Hb F levels | NM_001384528.1 | |
| 4000 | rs2238104 | N/A | NC_000012.12:g.6078499G>T | VWF | Modifier | Proteinuria | NG_009072.2 | 51172 |
| 4001 | rs3743057 (NP_055087.2:p.Val248=) | N/A | NC_000015.10:g.78796665T>C | ADAMTS7 | Modifier | Proteinuria | NG_011492.1 | 19767 |
| 4002 | rs1968911 | N/A | NC_000002.12:g.140335313A>G | LRP1B | Modifier | Abnormal GFR | NG_051023.1 | 1802151 |
| 4051 | rs1563408 | N/A | NC_000007.14:g.114663134G>A | FOXP2 | Modifier | Severity | NG_007491.3 | |
| 4052 | rs903047 | N/A | NC_000003.12:g.131033165A>G | NEK11 | Modifier | Severity | NG_029225.1 | |
| 4054 | rs950310 | N/A | NC_000004.12:g.9841226T>A | SLC2A9 | Modifier | Severity | NG_011540.2 | |
| 4055 | rs258824 | N/A | NC_000005.10:g.143217725C>T | ARHGAP26 | Modifier | Severity | NG_016711.2 |
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IthaGenes was last updated on 2024-11-20 13:24:07