IthaGenes

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Showing all entries in chromosome 12 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
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
2805	rs2580874	N/A	NG_011588.1:g.11633C>T	AICDA	Modifier	Hb F levels, Severity	NG_011588.1	11633
2649	rs706814	N/A	NG_009549.1:g.14642A>T	ACVRL1	Modifier	Pulmonary arterial hypertension	NG_009549.1	14642
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
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
3197	rs10877969	N/A	NC_000012.12:g.63153459T>C	AVPR1A	Modifier	Pain	N/A
3666	rs2954930	N/A	NC_000012.12:g.11899768G>A	ETV6-BCL2L14	Modifier	F-cell numbers	N/A
2899	rs1978331	N/A	NC_000012.12:g.96015423A>G	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2898	rs10492226	N/A	NC_000012.12:g.96010211T>A	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2770	rs3847859	N/A	NC_000012.12:g.51899716G>A	ACVRL1	Modifier	Pulmonary arterial hypertension	N/A
3212	rs61729510	N/A	NG_029826.1:g.21020G>A	CD163	Modifier	Abnormal GFR	NG_029826.1	21020
3213	rs764833434 (R218Q)	N/A	NG_030361.1:g.7406G>A	SP1	Modifier	Hb F levels	NG_030361.1	7406
3453	rs11053646	N/A	NG_016743.1:g.16343G>C	OLR1	Modifier	Hb F response to hydroxyurea	NG_016743.1	16343
3528	rs739496	N/A	NG_021216.1:g.48908A>G	SH2B3	Modifier	Abnormal platelet count	NG_021216.1	48908
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
4000	rs2238104	N/A	NC_000012.12:g.6078499G>T	VWF	Modifier	Proteinuria	NG_009072.2	51172

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