IthaGenes

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Showing all Neutral polymorphisms (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
3432	Hkαα	N/A	N/A	α2, α1, α3.7 hybrid	Neutral	N/A
3433	anti-Hkαα	N/A	N/A	α2, α1	Neutral	N/A
2971	-44 C>A	N/A	HBA2:c.-81C>A	α2	Neutral	N/A
2481	CAP +14 C>G	N/A	HBA2:c.-24C>G	α2	Neutral	N/A
3033	IVS I-27 C>T	N/A	HBA2:c.95+27C>T	α2	Neutral	N/A
3063	IVS II-55 T>G	N/A	HBA2:c.300+55T>G	α2	Neutral	N/A
3365	IVS II-119 (-G) (+CTCGGCCC)	N/A	HBA2:c.301-24delGinsCTCGGCCC	α2	Neutral	N/A
3333	CD 137 ACC>ACT	N/A	HBA2:c.414C>T	α2	Neutral	N/A
2228	3' UTR +832 G>A	N/A	HBA2:c.*107A>G	α2	Neutral	N/A
3301	+861 G>A	N/A	HBA2:c.*136A>G	α2	Neutral	N/A
3072	125 bp deletion	N/A	NG_000006.1: g.37040_37164del	α1	Neutral	N/A
3302	+778 C>A	N/A	HBA1:c.*46C>A	α1	Neutral	N/A
2550	African I duplication	N/A	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A
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
2479	1992 bp deletion	N/A	NG_000007.3:g.(11834_11835)_(13826_13827)del1992	βLCR	Neutral	N/A
2036	-487 T>C	N/A	NG_000007.3:g.70076C>T	β	Neutral	N/A
2037	-300 C>T	N/A	NG_000007.3:g.70205C>T	β	Neutral	N/A
2546	-126 C>T	N/A	HBB:c.-176C>T	β	Neutral	N/A
2039	-54 G>A	N/A	NG_000007.3:g.70491G>A	β	Neutral	N/A
2040	-42 C>G	N/A	NG_000007.3:g.70503C>G	β	Neutral	N/A
2494	CAP +16 A>G	N/A	HBB:c.-35A>G	β	Neutral	N/A
37	CAP +20 C>T	N/A	HBB:c.-31C>T	β	Neutral	N/A
2041	CD 2 CAC>CAT [His>His]	N/A	NG_000007.3:g.70603T>C	β	Neutral	N/A
3007	CD 2 CAT>CAC [His>His]	N/A	HBB:c.9T>C	β	Neutral	N/A
2042	CD 11 GCC>GCA [Ala>Ala]	N/A	NG_000007.3:g.70627C>A	β	Neutral	N/A
2043	CD 25 GTT>GTA [Val>Val]	N/A	NG_000007.3:g.70669T>A	β	Neutral	N/A
2044	CD 29 GGC>GGG [Gly>Gly]	N/A	NG_000007.3:g.70684C>G	β	Neutral	N/A
2045	IVS I-16 A>C	N/A	NG_000007.3:g.70702A>C	β	Neutral	N/A
3246	IVS I-44 A>G	N/A	HBB:c.92+44G>A	β	Neutral	N/A
2046	IVS I-91 C>T	N/A	NG_000007.3:g.70777C>T	β	Neutral	N/A
2047	IVS I-93 G>A	N/A	NG_000007.3:g.70779G>A	β	Neutral	N/A
3066	IVS I-108 T>C	N/A	HBB:c.93-23T>C	β	Neutral	N/A
2048	CD 35 TAC>TAT [Tyr>Tyr]	N/A	NG_000007.3:g.70832C>T	β	Neutral	N/A
2049	CD 50 ACT>ACA [Thr>Thr]	N/A	NG_000007.3:g.70877T>A	β	Neutral	N/A
2050	CD 59 AAG>AAA [Lys>Lys]	N/A	NG_000007.3:g.70904G>A	β	Neutral	N/A
2051	CD 88 CTG>CTC [Leu>Leu]	N/A	NG_000007.3:g.70991G>C	β	Neutral	N/A
2052	IVS II-16 C>G	N/A	NG_000007.3:g.71055G>C	β	Neutral	N/A
3010	IVS II-16 (G>C)	N/A	HBB:c.315+16G>C	β	Neutral	N/A
2053	IVS II-26 T>G	N/A	NG_000007.3:g.71065T>G	β	Neutral	N/A
2054	IVS II-74 T>G	N/A	HBB:c.315+74T>G	β	Neutral	N/A
3011	IVS II-81 (C>T)	N/A	HBB:c.315+81C>T	β	Neutral	N/A
3247	IVS II-209 (-TTTT)	N/A	HBB:c.315+209_315+212delTTTT	β	Neutral	N/A
3012	IVS II-255 T>C	N/A	HBB:c.315+255T>C	β	Neutral	N/A
2055	IVS II-260 A>G	N/A	NG_000007.3:g.71299A>G	β	Neutral	N/A
2495	IVS II-478 C>A	N/A	HBB:c.316-373C>A	β	Neutral	N/A
3013	IVS II-643 (C>G)	N/A	HBB:c.316-208C>G	β	Neutral	N/A
2056	IVS II-666 (C>T)	N/A	HBB:c.316-185C>T	β	Neutral	N/A
2057	IVS II-806G>C	N/A	NG_000007.3:g.71845G>C	β	Neutral	N/A
2058	CD 122 TTT>TTC [Phe>Phe]	N/A	NG_000007.3:g.71943C>T	β	Neutral	N/A
2059	CD 139 AAT>AAC [Asn>Asn]	N/A	NG_000007.3:g.71994T>C	β	Neutral	N/A
2060	+1478 C>T	N/A	NG_000007.3:g.72022C>T	β	Neutral	N/A
3180	+1536 A>G	N/A	NG_000007.3:g.72080A>G	β	Neutral	N/A
2061	+1541 C>T	N/A	NG_000007.3:g.72085C>T	β	Neutral	N/A
2062	+1570 T>C	N/A	NG_000007.3:g.72114T>C	β	Neutral	N/A
2063	+1578 G>A	N/A	N/A	β	Neutral	N/A
2064	+1609 T>C	N/A	NG_000007.3:g.72153T>A	β	Neutral	N/A
2496	CAP +1656 G>A	N/A	HBB:c.*182G>A	β	Neutral	N/A
2286	-473 (A>G) (11943(A>G) , c.-201A , rs4499252)	N/A	NT_010393.16:g.31478982A>G	AHSP	Neutral	N/A
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
2290	CD 77 CTG>CTT (12895 (G>T) , L77L , rs17677)	N/A	NT_010393.16:g.31479934G>T	AHSP	Neutral	N/A

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