IthaGenes

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Showing all entries in chromosome 10 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2648	rs1801253	N/A	NG_012187.1:g.6251G>C	ADRB1	Modifier	Pulmonary arterial hypertension	NG_012187.1	6251
2675	rs6586039	N/A	NG_009362.1:g.57170G>A	BMPR1A	Modifier	Bacteremia	NG_009362.1	57170
2676	rs17107199 (hCV1663921)	N/A	NG_009362.1:g.167412C>T	BMPR1A	Modifier	Bacteremia	NG_009362.1	167412
3553	rs1800450	N/A	NG_008196.1:g.5226G>A	MBL2	Modifier	Recurrent infections	NG_008196.1	5226
3554	rs1800451	N/A	NG_008196.1:g.5235G>A	MBL2	Modifier	Recurrent infections	NG_008196.1	5235
3123	rs10904850	N/A	NG_008967.1:g.179110C>T	CUBN	Modifier	Anaemia	NG_008967.1	179110
3210	rs111265129	N/A	NG_008967.1:g.283485A>G	CUBN	Modifier	Abnormal GFR	NG_008967.1	283485
3137	rs2273697	N/A	NG_011798.1:g.26353G>A	ABCC2	Modifier	Response to deferasirox	NG_011798.1	26353
3454	rs11819496	N/A	NC_000010.11:g.100499576C>G	SEC31B	Modifier	Hb F response to hydroxyurea	NM_015490.4	0
3459	rs869801	N/A	NG_033919.2:g.546967G>A	DOCK1	Modifier	Hb F response to hydroxyurea	NG_033919.2	546967
3506	rs7899453	N/A	NG_012633.1:g.11442C>A	RPS24	Modifier	Pain	NG_012633.1	11442
3507	rs11817401	N/A	NG_029120.1:g.95564G>A	SORCS1	Modifier	Pain	NG_029120.1	95564
4047	rs1470556171	N/A	NC_000010.11:g.70151281A>C	SAR1A	Modifier	Hb F levels	NM_001142648.2
4049	rs80028936	N/A	NC_000010.11:g.70151213GT[1] \| NC_000010.11:g.70151213GT[3]	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
4048	rs1046747	N/A	NC_000010.11:g.70150874G>A	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3538	rs2394643	N/A	NC_000010.11:g.70151258C>A \| NC_000010.11:g.70151258C>T	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3537	rs1180306451	N/A	NC_000010.11:g.70151277_70151284del	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3536	rs1479076497	N/A	NC_000010.11:g.70151278_70151284del	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3535	rs56381518	N/A	NC_000010.11:g.70170483A>C \| NC_000010.11:g.70170483A>G \| NC_000010.11:g.70170483A>T	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3539	rs115340990	N/A	NC_000010.11:g.70151008A>G	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2	0
3540	rs1482813291	N/A	NC_000010.11:g.70151276_70151284del	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2	0
3534	rs55890525	N/A	NC_000010.11:g.70171015C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3533	rs56303718	N/A	NC_000010.11:g.70170898C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3532	rs56291099	N/A	NC_000010.11:g.70171322G>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
2918	rs4282891	N/A	NC_000010.11:g.70170313A>G	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
2917	rs2310991	N/A	NC_000010.11:g.70171890C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3668	rs12412148	N/A	NG_033998.1:g.90878C>T	SVIL	Modifier	F-cell numbers	NG_033998.1	90878

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