IthaGenes

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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
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
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
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
3614	CAP +14 C>G	N/A	HBA1:c.-24C>G	α1	Neutral	α-thalassaemia	NG_000006.1	37556
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
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
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
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
3936	Italian HS1	N/A	NG_000007.3:g.21088_24120del	βLCR	Neutral	N/A	NG_000007.3	21088
3573	rs3834466	N/A	NG_000007.3:g.27282dup	β	Neutral	N/A	NG_000007.3	27282
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
3959	HBG1-HBG2 deletion	N/A	NG_000007.3:g.43348_48271del	Aγ, Gγ	Neutral	N/A	NG_000007.3	43348
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
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
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
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
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
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
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	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
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
2063	3'UTR +104 G>A (+1578 G>A)	N/A	HBB:c.*104G>A	β	Neutral	N/A	NG_000007.3	72122
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
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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