IthaGenes

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Showing all entries in locus N/A (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
2119	rs12103880	N/A	NC_000017.11:g.9795025G>A	DHRS7C-GLP2R	Modifier	Hb F levels, Hb F response to hydroxyurea
2603	rs648464	N/A	NC_000013.11:g.33093328G>A	STARD13	Modifier	Osteonecrosis/Avascular necrosis
2678	rs8007267	N/A	NC_000014.9:g.54912273C>T	GCH1	Modifier	Pain
2679	rs17728960	N/A	NC_000020.11:g.51513177T>C	NFATC2	Modifier	Acute chest syndrome
2746	rs7985485 (hCV3118898)	N/A	NC_000013.11:g.32786336C>A	PDS5B	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis
2751	rs7170421 (hCV11770326)	N/A	NC_000015.10:g.60341947C>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis
2752	rs7170178	N/A	NC_000015.10:g.60341655G>A	ANXA2	Modifier	Osteonecrosis/Avascular necrosis
2753	rs1033028	N/A	NC_000015.10:g.60324736T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis
2754	rs11853426 (hCV26910500)	N/A	NC_000015.10:g.60317231C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis, Stroke
2758	rs9920494 (hCV1571628)	N/A	NC_000015.10:g.60313715T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis
2760	rs270393	N/A	NC_000006.12:g.7768619G>C	BMP6	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension
2763	rs1225934	N/A	NC_000006.12:g.7877186A>C	BMP6	Modifier	Osteonecrosis/Avascular necrosis
2764	rs3812163	N/A	NC_000006.12:g.7725527A>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis
2766	rs10244884	N/A	NC_000007.14:g.30932180T>C	AQP1	Modifier	Priapism
2767	rs3768780	N/A	NC_000002.12:g.186613773A>G	ITGAV	Modifier	Priapism
2768	rs219825	N/A	NC_000007.14:g.99047942C>G	SMURF1	Modifier	Leg ulcers
2769	rs736839	N/A	NC_000018.10:g.49001695C>T	SMAD7	Modifier	Acute chest syndrome, Leg ulcers
2770	rs3847859	N/A	NC_000012.12:g.51899716G>A	ACVRL1	Modifier	Pulmonary arterial hypertension
2771	rs267192	N/A	NC_000006.12:g.7845011C>T	BMP6	Modifier	Pulmonary arterial hypertension
2773	rs2238426	N/A	NC_000016.10:g.3953732A>G	ADCY9	Modifier	Stroke
2775	rs1122109	N/A	NC_000017.11:g.44807170C>A	GJC1	Modifier	Hb F levels
2776	rs2108393	N/A	NC_000017.11:g.44803385C>T	GJC1	Modifier	Hb F levels
2777	rs776717	N/A	NC_000015.10:g.42109454T>C	PLA2G4D-PLA2G4F	Modifier	Hb F levels
2787	rs4808793	N/A	NC_000019.10:g.18383027G>C	GDF15	Modifier	Abnormal hepcidin level
2791	rs840716	N/A	NC_000011.10:g.4932232G>T	OR51G1-OR51A3P	Modifier	Hb F levels
2796	rs1391619	N/A	NC_000011.10:g.5434699G>A	OR51B5	Modifier	Hb F levels
2797	rs7937649	N/A	NC_000011.10:g.5201149G>A	OR51V1	Modifier	Hb F levels
2798	rs10837540	N/A	NC_000011.10:g.5193183T>A	OR52Z1-OR51V1	Modifier	Hb F levels
2829	rs5006884	N/A	NC_000011.10:g.5352021C>T	OR51B6	Modifier	Hb F levels
2830	rs4910755	N/A	NC_000011.10:g.5351521A>C	OR51B6	Modifier	Hb F levels
2831	rs4910756	N/A	NC_000011.10:g.5351626A>G	OR51B6	Modifier	Hb F levels
2832	rs7483122	N/A	NC_000011.10:g.5351776T>C	OR51B6	Modifier	Hb F levels
2833	rs5006883	N/A	NC_000011.10:g.5352081T>C	OR51B6	Modifier	Hb F levels
2834	rs5024042	N/A	NC_000011.10:g.5352332C>A	OR51B6	Modifier	Hb F levels
2835	rs10500635	N/A	NC_000011.10:g.5365438G>A	OR51B5	Modifier	Hb F levels
2836	rs416586	N/A	NC_000011.10:g.5472327A>G	OR51B5	Modifier	Hb F levels
2868	rs11037191	N/A	NC_000011.10:g.5390842A>G	OR51B5	Modifier	Hb F levels
2873	rs11036238	N/A	NC_000011.10:g.5204405G>C	OR51V1-HBB	Modifier	Hb F levels
2875	rs10836955	N/A	NC_000011.10:g.4924401G>A	OR51G1	Modifier	Hb F levels
2877	rs2340653	N/A	NC_000011.10:g.5430531G>A	OR51B5	Modifier	Hb F levels
2878	rs2647579	N/A	NC_000011.10:g.5419057A>G	OR51B5	Modifier	Hb F levels
2879	rs7951206	N/A	NC_000011.10:g.4590424G>A	OR52I2-OR52I1	Modifier	Hb F levels
2880	rs888082	N/A	NC_000002.12:g.60402474G>A	LOC102724142	Modifier	Hb F levels
2881	rs12286144	N/A	NC_000011.10:g.5521789T>C	OLFM5P	Modifier	Hb F levels
2882	rs12802922	N/A	NC_000011.10:g.4914380C>T	OR51G2	Modifier	Hb F levels
2883	rs4821469	N/A	NC_000022.11:g.36220399T>C	APOL4-APOL2	Modifier	Focal segmental glomerulosclerosis
2884	rs4821475	N/A	NC_000022.11:g.36273049C>T	APOL1-MYH9	Modifier	Focal segmental glomerulosclerosis
2886	rs243027	N/A	NC_000002.12:g.60379872T>G	MIR4432HG	Modifier	F-cell numbers
2887	rs243081	N/A	NC_000002.12:g.60386641G>A	MIR4432HG	Modifier	F-cell numbers
2888	rs2179288	N/A	NC_000006.12:g.136368292A>G	MAP7	Modifier	Hb F levels
2889	rs2076192	N/A	NC_000006.12:g.136377559C>A	MAP7	Modifier	Hb F levels
2890	rs3778314	N/A	NC_000006.12:g.136516923T>C	MAP7	Modifier	Hb F levels
2896	rs3027045	N/A	NC_000001.11:g.159212305C>T	ACKR1	Modifier	Pulmonary arterial hypertension
2898	rs10492226	N/A	NC_000012.12:g.96010211T>A	LTA4H	Modifier	Pulmonary arterial hypertension
2899	rs1978331	N/A	NC_000012.12:g.96015423A>G	LTA4H	Modifier	Pulmonary arterial hypertension
2917	rs2310991 (-1377 G>T)	N/A	NC_000010.11:g.70171890C>A	SAR1A	Modifier	Hb F response to hydroxyurea
2918	rs4282891 (intron 1 +100 (G>A))	N/A	NC_000010.11:g.70170313A>G	SAR1A	Modifier	Hb F response to hydroxyurea
2919	rs2295644	N/A	NC_000014.9:g.67599842A>T	ARG2	Modifier	Hb F response to hydroxyurea
2924	rs4786504	N/A	NC_000016.10:g.4487692T>C	HMOX2	Modifier	Anaemia
2930	rs3732410 (Y1212C)	N/A	NC_000003.12:g.121696873T>C	GOLGB1	Modifier	Stroke
2933	rs799813	N/A	NC_000002.12:g.154354666C>G	GALNT13	Modifier	Pulmonary arterial hypertension
2934	rs10497120	N/A	NC_000002.12:g.153513398A>C	GALNT13	Modifier	Pulmonary arterial hypertension
2935	rs13407922	N/A	NC_000002.12:g.154425285G>A	GALNT13	Modifier	Pulmonary arterial hypertension
2936	rs16833378	N/A	NC_000002.12:g.153515514A>G	GALNT13	Modifier	Pulmonary arterial hypertension
2937	rs9808145	N/A	NC_000002.12:g.154425689T>A	GALNT13	Modifier	Pulmonary arterial hypertension
2938	rs7208480	N/A	NC_000017.11:g.15770470C>T	ADORA2B	Modifier	Pulmonary arterial hypertension
2939	rs2794452	N/A	NC_000001.11:g.203468576T>C	PRELP	Modifier	Pulmonary arterial hypertension
3127	rs141631682	N/A	NC_000014.9:g.99865589G>A	EML1	Modifier	Hb F response to hydroxyurea
3128	rs17126352	N/A	NC_000014.9:g.73254537G>A	PAPLN	Modifier	Hb F response to hydroxyurea
3129	rs2273668	N/A	NG_029518.1:g.97190C>A	SESN1	Modifier	Hb F response to hydroxyurea
3130	rs61746132	N/A	NC_000004.12:g.154235260G>A	DCHS2	Modifier	Hb F response to hydroxyurea
3132	rs61742645	N/A	NC_000007.14:g.156969123C>T	NOM1	Modifier	Hb F response to hydroxyurea
3151	rs10756993	N/A	NC_000009.12:g.18839726A>C	ADAMTSL1	Modifier	Hb F levels
3152	rs62573842	N/A	NC_000009.12:g.32264314A>G	LOC107987059	Modifier	Hb F levels
3154	rs7163278	N/A	NC_000015.10:g.93345162T>C	LOC105370982	Modifier	Hb F levels
3155	rs10468869	N/A	NW_003315959.1:g.26240C>T	LOC100422053-RPS8P3	Modifier	Hb F levels
3156	rs28567737	N/A	NC_000019.10:g.46027961T>C	LOC105372421	Modifier	Hb F levels
3173	rs11072544	N/A	NC_000015.10:g.75373740G>A	SIN3A	Modifier	Hb F levels
3174	rs7166737	N/A	NC_000015.10:g.75390172A>G	SIN3A	Modifier	Hb F response to hydroxyurea
3181	rs141006889	N/A	NC_000016.10:g.88534873A>G	ZFPM1	Modifier	Anaemia
3196	rs1478605	N/A	NC_000015.10:g.39581083G>A	THBS1	Modifier	Pulmonary arterial hypertension
3197	rs10877969	N/A	NC_000012.12:g.63153459T>C	AVPR1A	Modifier	Pain
3220	rs4713339	N/A	NC_000006.12:g.11287099C>T	NEDD9	Modifier	Hb F levels
3263	rs35685045	N/A	NG_012649.1:g.90541C>T	ANTXR1	Modifier	Hb F levels
3285	rs11759328	N/A	NC_000006.12:g.129691228C>T	ARHGAP18	Modifier	Hb F levels
3300	rs6777055	N/A	NC_000003.12:g.55039890A>C	CACNA2D3	Modifier	Vaso-occlusive crisis
3304	rs734784	N/A	NC_000020.11:g.45094986T>C	KCNS1	Modifier	Vaso-occlusive crisis
3331	rs1547247	N/A	NC_000006.11:g.135390836G>A	HBS1L-LOC105378010	Modifier	Hb F levels
2591	rs7163836	N/A	NC_000015.10:g.60348029C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis
2611	rs2148322	N/A	NC_000001.11:g.91656775A>C	TGFBR3	Modifier	Stroke

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