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Showing all Neutral polymorphisms (Show All):
| IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
|---|---|---|---|---|---|---|---|---|
| 3432 | Hkαα | N/A | N/A | α2, α1, α3.7 hybrid | Neutral | N/A | NG_000006.1 | 0 |
| 3433 | anti-Hkαα | N/A | N/A | α2, α1 | Neutral | N/A | NG_000006.1 | 0 |
| 2971 | -44 C>A | N/A | HBA2:c.-81C>A | α2 | Neutral | N/A | NG_000006.1 | 33695 |
| 3785 | -6 G>C | N/A | HBA2:c.-43G>C | α2 | Neutral | N/A | NG_000006.1 | 33733 |
| 2481 | CAP +14 C>G | N/A | HBA2:c.-24C>G | α2 | Neutral | N/A | NG_000006.1 | 33752 |
| 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 |
| 3782 | IVS I-41 G>T | N/A | HBA1:c.95+41G>T | α1 | Neutral | N/A | NG_000006.1 | 33911 |
| 3696 | CD 94 GAC>GAT [Asp>Asp] | N/A | HBA2:c.285C>T | α2 | Neutral | N/A | NG_000006.1 | 34177 |
| 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 |
| 3365 | IVS II-119 (-G) (+CTCGGCCC) | N/A | HBA2:c.301-24delGinsCTCGGCCC | α2 | Neutral | N/A | NG_000006.1 | 34311 |
| 3333 | CD 137 ACC>ACT | N/A | HBA2:c.414C>T | α2 | Neutral | N/A | NG_000006.1 | 34448 |
| 3732 | CD 140 TAC>TAT [Tyr>Tyr] | N/A | HBA2:c.423C>T | α2 | Neutral | N/A | NG_000006.1 | 34457 |
| 2228 | 3' UTR +832 G>A | N/A | HBA2:c.*107A>G | α2 | Neutral | N/A | NG_000006.1 | 34570 |
| 3301 | TTS +26 A>G | N/A | HBA2:c.*136A>G | α2 | Neutral | N/A | NG_000006.1 | 34599 |
| 3072 | 125 bp deletion | N/A | NG_000006.1: g.37040_37164del | α1 | Neutral | N/A | NG_000006.1 | 37040 |
| 3740 | -5 C>T | N/A | HBA1:c.-42C>T | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37538 |
| 3768 | IVS I-39 C>T | N/A | HBA1:c.95+39C>T | α1 | Neutral | N/A | NG_000006.1 | 37713 |
| 3755 | CD 69 GCC>GCT [Ala>Ala] | N/A | HBA1:c.210C>T | α1 | Neutral | N/A | NG_000006.1 | 37906 |
| 3695 | CD 131 TCT>TCC [Ser>Ser] | N/A | HBA1:c.396T>C | α1 | Neutral | N/A | NG_000006.1 | 38241 |
| 3302 | 3'UTR +46 C>A | N/A | HBA1:c.*46C>A | α1 | Neutral | N/A | NG_000006.1 | 38320 |
| 3596 | Gγ duplication (-Gγ-Gγ-, HBG2 duplication) | N/A | N/A | Gγ | Neutral | N/A | NG_000007.3 | |
| 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 |
| 3112 | African II duplication | N/A | NC_000011.9:g.5290168_5290169ins4640332_(5201300_5204930) ins(5237420_5243270)_5290168 | ε, Aγ, Gγ, δ, β, pseudo β | Neutral | N/A | NG_000007.3 | 0 |
| 2479 | 1992 bp deletion | N/A | NG_000007.3:g.(11834_11835)_(13826_13827)del1992 | βLCR | Neutral | N/A | NG_000007.3 | 11834 |
| 3573 | rs3834466 | N/A | NG_000007.3:g.27282dup | β | Neutral | N/A | NG_000007.3 | 27282 |
| 3574 | rs28440105 | N/A | NG_000007.3:g.49047T>G | NG_000007.3:g.49047T>A | Aγ | Neutral | N/A | NG_000007.3 | 49047 |
| 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 |
| 3787 | CD 97 CAC>CAT [His>His] | N/A | HBD:c.294C>T | δ | Neutral | N/A | NG_000007.3 | 63604 |
| 2036 | -487 T>C | N/A | NG_000007.3:g.70076C>T | β | Neutral | N/A | NG_000007.3 | 70076 |
| 2037 | -300 C>T | N/A | NG_000007.3:g.70205C>T | β | Neutral | N/A | NG_000007.3 | 70205 |
| 2546 | -126 C>T | N/A | HBB:c.-176C>T | β | Neutral | N/A | NG_000007.3 | 70419 |
| 2039 | -54 G>A | N/A | NG_000007.3:g.70491G>A | β | Neutral | N/A | NG_000007.3 | 70491 |
| 2040 | -42 C>G | N/A | NG_000007.3:g.70503C>G | β | Neutral | N/A | NG_000007.3 | 70503 |
| 2494 | CAP +16 A>G | N/A | HBB:c.-35A>G | β | Neutral | N/A | NG_000007.3 | 70560 |
| 37 | CAP +20 C>T | N/A | HBB:c.-31C>T | β | Neutral | N/A | NG_000007.3 | 70564 |
| 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 |
| 3850 | CD 3 CTG>TTG [Leu>Leu] | N/A | HBB:c.10C>T | β | Neutral | N/A | NG_000007.3 | 70604 |
| 2042 | CD 11 GCC>GCA [Ala>Ala] | N/A | NG_000007.3:g.70627C>A | β | Neutral | N/A | NG_000007.3 | 70627 |
| 2043 | CD 25 GTT>GTA [Val>Val] | N/A | NG_000007.3:g.70669T>A | β | Neutral | N/A | NG_000007.3 | 70669 |
| 3635 | CD 26 GAG>GAA | N/A | HBB:c.81G>A | β | Neutral | N/A | NG_000007.3 | 70675 |
| 3781 | CD 27 GCC>GCT [Ala>Ala] | N/A | HBB:c.84C>T | β | Neutral | N/A | NG_000007.3 | 70678 |
| 2044 | CD 29 GGC>GGG [Gly>Gly] | N/A | NG_000007.3:g.70684C>G | β | Neutral | N/A | NG_000007.3 | 70684 |
| 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 |
| 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 | Neutral | N/A | NG_000007.3 | 70794 |
| 2048 | CD 35 TAC>TAT [Tyr>Tyr] | N/A | NG_000007.3:g.70832C>T | β | Neutral | N/A | NG_000007.3 | 70832 |
| 2049 | CD 50 ACT>ACA [Thr>Thr] | N/A | NG_000007.3:g.70877T>A | β | Neutral | N/A | NG_000007.3 | 70877 |
| 3780 | CD 56 GGC>GGT [Gly>Gly] | N/A | HBB:c.171C>T | β | Neutral | N/A | NG_000007.3 | 70895 |
| 3779 | CD 57 AAC>AAT [Asn>Asn] | N/A | HBB:c.174C>T | β | Neutral | N/A | NG_000007.3 | 70898 |
| 2050 | CD 59 AAG>AAA [Lys>Lys] | N/A | HBB:c.180G>A | β | Neutral | N/A | NG_000007.3 | 70904 |
| 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 |
| 3777 | CD 81 CTC>CTG [Leu>Leu] | N/A | HBB:c.246C>G | β | Neutral | N/A | NG_000007.3 | 70970 |
| 2051 | CD 88 CTG>CTC [Leu>Leu] | N/A | NG_000007.3:g.70991G>C | β | Neutral | N/A | NG_000007.3 | 70991 |
| 3776 | CD 95 AAG>AAA [Lys>Lys] | N/A | HBB:c.288G>A | β | Neutral | N/A | NG_000007.3 | 71012 |
| 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 |
| 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 |
| 3633 | IVS II-144 T>A | N/A | HBB:c.315+144T>A | β | Neutral | N/A | NG_000007.3 | 71183 |
| 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 |
| 2495 | IVS II-478 C>A | N/A | HBB:c.316-373C>A | β | Neutral | N/A | NG_000007.3 | 71517 |
| 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 |
| 3013 | IVS II-643 (C>G) | N/A | HBB:c.316-208C>G | β | Neutral | N/A | NG_000007.3 | 71682 |
| 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 |
| 2057 | IVS II-806G>C | N/A | NG_000007.3:g.71845G>C | β | Neutral | N/A | NG_000007.3 | 71845 |
| 3772 | IVS II-814 (G>T) | N/A | HBB:c.316-37G>T | β | Neutral | N/A | NG_000007.3 | 71853 |
| 2058 | CD 122 TTT>TTC [Phe>Phe] | N/A | NG_000007.3:g.71943C>T | β | Neutral | N/A | NG_000007.3 | 71943 |
| 3784 | CD 133 GTG>GTC [Val>Val] | N/A | HBB:c.402G>C | β | Neutral | N/A | NG_000007.3 | 71976 |
| 2059 | CD 139 AAT>AAC [Asn>Asn] | N/A | NG_000007.3:g.71994T>C | β | Neutral | N/A | NG_000007.3 | 71994 |
| 3771 | CD 143 CAC>CAT [His>His] | N/A | HBB:c.432C>T | β | Neutral | N/A | NG_000007.3 | 72006 |
| 2060 | +1478 C>T | N/A | NG_000007.3:g.72022C>T | β | Neutral | N/A | NG_000007.3 | 72022 |
| 3180 | 3'UTR +62 A>G | N/A | HBB:c.*62A>G | β | Neutral | N/A | NG_000007.3 | 72080 |
| 2061 | +1541 G>T (HBB:c.*67G>T) | N/A | NG_000007.3:g.72085C>T | β | Neutral | N/A | NG_000007.3 | 72085 |
| 2063 | +1578 G>A | N/A | HBB:c.*104G>A | β | Neutral | N/A | NG_000007.3 | 72122 |
| 2064 | +1609 T>C | N/A | NG_000007.3:g.72153T>A | β | Neutral | N/A | NG_000007.3 | 72153 |
| 2496 | TTS +48 G>A (CAP +1656 G>A) | N/A | HBB:c.*182G>A | β | Neutral | N/A | NG_000007.3 | 72200 |
| 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 |
| 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 |
| 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 |
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IthaGenes was last updated on 2021-09-24 11:41:32