IthaGenes

Loading... Please wait!

Quick filtering

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
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
3063	IVS II-55 T>G	N/A	HBA2:c.300+55T>G	α2	Neutral	N/A	NG_000006.1	34247
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
2228	3' UTR +832 G>A	N/A	HBA2:c.*107A>G	α2	Neutral	N/A	NG_000006.1	34570
3301	+861 G>A	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
3302	+778 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
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	CD 2 CAT>CAC [His>His]	N/A	HBB:c.9T>C	β	Neutral	N/A	NG_000007.3	70603
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
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	NG_000007.3:g.70777C>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
2050	CD 59 AAG>AAA [Lys>Lys]	N/A	NG_000007.3:g.70904G>A	β	Neutral	N/A	NG_000007.3	70904
2051	CD 88 CTG>CTC [Leu>Leu]	N/A	NG_000007.3:g.70991G>C	β	Neutral	N/A	NG_000007.3	70991
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
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
2057	IVS II-806G>C	N/A	NG_000007.3:g.71845G>C	β	Neutral	N/A	NG_000007.3	71845
2058	CD 122 TTT>TTC [Phe>Phe]	N/A	NG_000007.3:g.71943C>T	β	Neutral	N/A	NG_000007.3	71943
2059	CD 139 AAT>AAC [Asn>Asn]	N/A	NG_000007.3:g.71994T>C	β	Neutral	N/A	NG_000007.3	71994
2060	+1478 C>T	N/A	NG_000007.3:g.72022C>T	β	Neutral	N/A	NG_000007.3	72022
3180	+1536 A>G	N/A	NG_000007.3:g.72080A>G	β	Neutral	N/A	NG_000007.3	72080
2061	+1541 C>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	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

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.