IthaGenes

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

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2116	rs6630120	N/A	NC_000023.11:g.25718363A>G	RANBP1P1-MAGEB18	Modifier	F-cell numbers	N/A
2119	rs12103880	N/A	NC_000017.11:g.9795025G>A	DHRS7C-GLP2R	Modifier	Hb F levels, Hb F response to hydroxyurea	N/A
2603	rs648464	N/A	NC_000013.11:g.33093328G>A	STARD13	Modifier	Osteonecrosis/Avascular necrosis	N/A
2678	rs8007267	N/A	NC_000014.9:g.54912273C>T	GCH1	Modifier	Pain	N/A
2679	rs17728960	N/A	NC_000020.11:g.51513177T>C	NFATC2	Modifier	Acute chest syndrome	N/A
2746	rs7985485 (hCV3118898)	N/A	NC_000013.11:g.32786336C>A	PDS5B	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2751	rs7170421 (hCV11770326)	N/A	NC_000015.10:g.60341947C>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2752	rs7170178	N/A	NC_000015.10:g.60341655G>A	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2753	rs1033028	N/A	NC_000015.10:g.60324736T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2754	rs11853426 (hCV26910500)	N/A	NC_000015.10:g.60317231C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis, Stroke	N/A
2758	rs9920494 (hCV1571628)	N/A	NC_000015.10:g.60313715T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2760	rs270393	N/A	NC_000006.12:g.7768619G>C	BMP6	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2763	rs1225934	N/A	NC_000006.12:g.7877186A>C	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2764	rs3812163	N/A	NC_000006.12:g.7725527A>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2766	rs10244884	N/A	NC_000007.14:g.30932180T>C	AQP1	Modifier	Priapism	N/A
2767	rs3768780	N/A	NC_000002.12:g.186613773A>G	ITGAV	Modifier	Priapism	N/A
2768	rs219825	N/A	NC_000007.14:g.99047942C>G	SMURF1	Modifier	Leg ulcers	N/A
2769	rs736839	N/A	NC_000018.10:g.49001695C>T	SMAD7	Modifier	Acute chest syndrome, Leg ulcers	N/A
2770	rs3847859	N/A	NC_000012.12:g.51899716G>A	ACVRL1	Modifier	Pulmonary arterial hypertension	N/A
2771	rs267192	N/A	NC_000006.12:g.7845011C>T	BMP6	Modifier	Pulmonary arterial hypertension	N/A
2775	rs1122109	N/A	NC_000017.11:g.44807170C>A	GJC1	Modifier	Hb F levels	N/A
2776	rs2108393	N/A	NC_000017.11:g.44803385C>T	GJC1	Modifier	Hb F levels	N/A
2777	rs776717	N/A	NC_000015.10:g.42109454T>C	PLA2G4D-PLA2G4F	Modifier	Hb F levels	N/A
2787	rs4808793	N/A	NC_000019.10:g.18383027G>C	GDF15	Modifier	Abnormal hepcidin level	N/A
2791	rs840716	N/A	NC_000011.10:g.4932232G>T	OR51G1-OR51A3P	Modifier	Hb F levels	N/A
2796	rs1391619	N/A	NC_000011.10:g.5434699G>A	OR51B5	Modifier	Hb F levels	N/A
2797	rs7937649	N/A	NC_000011.10:g.5201149G>A	OR51V1	Modifier	Hb F levels	N/A
2798	rs10837540	N/A	NC_000011.10:g.5193183T>A	OR52Z1-OR51V1	Modifier	Hb F levels	N/A
2829	rs5006884	N/A	NC_000011.10:g.5352021C>T	OR51B6	Modifier	Hb F levels, Acute chest syndrome	N/A
2830	rs4910755	N/A	NC_000011.10:g.5351521A>C	OR51B6	Modifier	Hb F levels	N/A
2831	rs4910756	N/A	NC_000011.10:g.5351626A>G	OR51B6	Modifier	Hb F levels	N/A
2832	rs7483122	N/A	NC_000011.10:g.5351776T>C	OR51B6	Modifier	Hb F levels	N/A
2833	rs5006883	N/A	NC_000011.10:g.5352081T>C	OR51B6	Modifier	Hb F levels	N/A
2834	rs5024042	N/A	NC_000011.10:g.5352332C>A	OR51B6	Modifier	Hb F levels	N/A
2835	rs10500635	N/A	NC_000011.10:g.5365438G>A	OR51B5	Modifier	Hb F levels	N/A
2836	rs416586	N/A	NC_000011.10:g.5472327A>G	OR51B5	Modifier	Hb F levels	N/A
2868	rs11037191	N/A	NC_000011.10:g.5390842A>G	OR51B5	Modifier	Hb F levels	N/A
2873	rs11036238	N/A	NC_000011.10:g.5204405G>C	OR51V1-HBB	Modifier	Hb F levels	N/A
2875	rs10836955	N/A	NC_000011.10:g.4924401G>A	OR51G1	Modifier	Hb F levels	N/A
2877	rs2340653	N/A	NC_000011.10:g.5430531G>A	OR51B5	Modifier	Hb F levels	N/A
2878	rs2647579	N/A	NC_000011.10:g.5419057A>G	OR51B5	Modifier	Hb F levels	N/A
2879	rs7951206	N/A	NC_000011.10:g.4590424G>A	OR52I2-OR52I1	Modifier	Hb F levels	N/A
2880	rs888082	N/A	NC_000002.12:g.60402474G>A	LOC102724142	Modifier	Hb F levels	N/A
2881	rs12286144	N/A	NC_000011.10:g.5521789T>C	OLFM5P	Modifier	Hb F levels	N/A
2882	rs12802922	N/A	NC_000011.10:g.4914380C>T	OR51G2	Modifier	Hb F levels	N/A
2883	rs4821469	N/A	NC_000022.11:g.36220399T>C	APOL4-APOL2	Modifier	Focal segmental glomerulosclerosis	N/A
2884	rs4821475	N/A	NC_000022.11:g.36273049C>T	APOL1-MYH9	Modifier	Focal segmental glomerulosclerosis	N/A
2886	rs243027	N/A	NC_000002.12:g.60379872T>G	MIR4432HG	Modifier	F-cell numbers	N/A
2887	rs243081	N/A	NC_000002.12:g.60386641G>A	MIR4432HG	Modifier	F-cell numbers	N/A
2888	rs2179288	N/A	NC_000006.12:g.136368292A>G	MAP7	Modifier	Hb F levels	N/A
2889	rs2076192	N/A	NC_000006.12:g.136377559C>A	MAP7	Modifier	Hb F levels	N/A
2890	rs3778314	N/A	NC_000006.12:g.136516923T>C	MAP7	Modifier	Hb F levels	N/A
2896	rs3027045	N/A	NC_000001.11:g.159212305C>T	ACKR1	Modifier	Pulmonary arterial hypertension	N/A
2898	rs10492226	N/A	NC_000012.12:g.96010211T>A	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2899	rs1978331	N/A	NC_000012.12:g.96015423A>G	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2919	rs2295644	N/A	NC_000014.9:g.67599842A>T	ARG2	Modifier	Hb F response to hydroxyurea	N/A
2924	rs4786504	N/A	NC_000016.10:g.4487692T>C	HMOX2	Modifier	Anaemia	N/A
2930	rs3732410 (Y1212C)	N/A	NC_000003.12:g.121696873T>C	GOLGB1	Modifier	Stroke	N/A
2933	rs799813	N/A	NC_000002.12:g.154354666C>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2934	rs10497120	N/A	NC_000002.12:g.153513398A>C	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2935	rs13407922	N/A	NC_000002.12:g.154425285G>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2936	rs16833378	N/A	NC_000002.12:g.153515514A>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2937	rs9808145	N/A	NC_000002.12:g.154425689T>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2938	rs7208480	N/A	NC_000017.11:g.15770470C>T	ADORA2B	Modifier	Pulmonary arterial hypertension	N/A
2939	rs2794452	N/A	NC_000001.11:g.203468576T>C	PRELP	Modifier	Pulmonary arterial hypertension	N/A
3127	rs141631682	N/A	NC_000014.9:g.99865589G>A	EML1	Modifier	Hb F response to hydroxyurea	N/A
3128	rs17126352	N/A	NC_000014.9:g.73254537G>A	PAPLN	Modifier	Hb F response to hydroxyurea	N/A
3130	rs61746132	N/A	NC_000004.12:g.154235260G>A	DCHS2	Modifier	Hb F response to hydroxyurea	N/A
3132	rs61742645	N/A	NC_000007.14:g.156969123C>T	NOM1	Modifier	Hb F response to hydroxyurea	N/A
3151	rs10756993	N/A	NC_000009.12:g.18839726A>C	ADAMTSL1	Modifier	Hb F levels	N/A
3152	rs62573842	N/A	NC_000009.12:g.32264314A>G	HMGB3P23-RNA5SP281	Modifier	Hb F levels	N/A
3154	rs7163278	N/A	NC_000015.10:g.93345162T>C	LOC105370982	Modifier	Hb F levels	N/A
3155	rs10468869	N/A	NW_003315959.1:g.26240C>T	LOC100422053-RPS8P3	Modifier	Hb F levels	N/A
3156	rs28567737	N/A	NC_000019.10:g.46027961T>C	LOC105372421	Modifier	Hb F levels	N/A
3173	rs11072544	N/A	NC_000015.10:g.75373740G>A	SIN3A	Modifier	Hb F levels	N/A
3174	rs7166737	N/A	NC_000015.10:g.75390172A>G	SIN3A	Modifier	Hb F response to hydroxyurea	N/A
3181	rs141006889	N/A	NC_000016.10:g.88534873A>G	FOG1	Modifier	Anaemia	N/A
3196	rs1478605	N/A	NC_000015.10:g.39581083G>A	THBS1	Modifier	Pulmonary arterial hypertension	N/A
3197	rs10877969	N/A	NC_000012.12:g.63153459T>C	AVPR1A	Modifier	Pain	N/A
3220	rs4713339	N/A	NC_000006.12:g.11287099C>T	NEDD9	Modifier	Hb F levels	N/A
3285	rs11759328	N/A	NC_000006.12:g.129691228C>T	ARHGAP18	Modifier	Hb F levels	N/A
3300	rs6777055	N/A	NC_000003.12:g.55039890A>C	CACNA2D3	Modifier	Vaso-occlusive crisis	N/A
3304	rs734784	N/A	NC_000020.11:g.45094986T>C	KCNS1	Modifier	Vaso-occlusive crisis	N/A
3347	rs10499052	N/A	NC_000006.12:g.109564272G>A	AK9	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	N/A
3579	rs3115229	N/A	NC_000004.12:g.122088578T>C	TRPC3-KIAA1109	Modifier	Vaso-occlusive crisis	N/A
3637	rs11968814	N/A	NC_000006.12:g.71067268G>A	B3GAT2-BECN1P2	Modifier	F-cell numbers	N/A
3639	rs10017284	N/A	NC_000004.12:g.120592060A>G	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3641	rs1845344	N/A	NC_000004.12:g.120041230G>T	PDE5A-MAD2L1	Modifier	F-cell numbers	N/A
3643	rs2577720	N/A	NC_000002.12:g.23325743A>C	LOC107985792-KLHL29	Modifier	F-cell numbers	N/A
3644	rs17135859	N/A	NC_000005.10:g.113660957T>C	YTHDC2-KCNN2	Modifier	F-cell numbers	N/A
3645	rs16914695	N/A	NC_000009.12:g.29336305A>G	PDK1P1-ME2P1	Modifier	F-cell numbers	N/A
3648	rs830868	N/A	NC_000005.10:g.52622080G>T	MFSD4BP1-ITGA1	Modifier	F-cell numbers	N/A
3658	rs1949857	N/A	NC_000007.14:g.71006906C>T	AUTS2-GALNT17	Modifier	F-cell numbers	N/A
3659	rs9304395	N/A	NC_000018.10:g.50309414G>T	CXXC1-RNA5SP458	Modifier	F-cell numbers	N/A
3660	rs4395533	N/A	NC_000004.12:g.120560795G>A	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3662	rs6891834	N/A	NC_000005.10:g.171841199C>T	LOC107986476	Modifier	F-cell numbers	N/A
3664	rs10439027	N/A	NC_000018.10:g.62620051T>C	ZCCHC2-RN7SL705P	Modifier	F-cell numbers	N/A
3666	rs2954930	N/A	NC_000012.12:g.11899768G>A	ETV6-BCL2L14	Modifier	F-cell numbers	N/A
3669	rs1442080	N/A	NC_000018.10:g.53658224G>A	RPL29P32-MBD2	Modifier	F-cell numbers	N/A
3670	rs584297	N/A	NC_000001.11:g.226520780T>C	LOC105373115	Modifier	F-cell numbers	N/A
3810	rs3759073	N/A	NG_000007.3:g.60581A>G	HBD-HBBP1	Modifier	Severity	N/A
3829	rs366257	N/A	NC_000011.10:g.5469313C>T	OR51B5	Modifier	Severity	N/A
3830	rs446541	N/A	NC_000011.10:g.5471070A>T	OR51B5	Modifier	Severity	N/A
3831	rs2030090	N/A	NC_000011.10:g.5452863A>G	OR51I2	Modifier	Severity	N/A
3832	rs3886223	N/A	NC_000011.10:g.5322517G>T	OR51B3P-OR51B2	Modifier	Severity	N/A
3858	rs1406811	N/A	NC_000006.12:g.135118989A>C	HBS1L-MYB	Modifier	Hb F levels	N/A
3908	rs201658643	N/A	NC_000022.11:g.34468965_34468966dup	LOC105373012-LOC441996	Modifier	Stroke	N/A
3909	rs10142478	N/A	NC_000014.9:g.21481668C>A	TOX4	Modifier	Stroke	N/A
3979	PUM1:p.H1090Pfs*16	N/A	NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del	PUM1	Modifier	Hb F levels	N/A
3999	rs9315599	N/A	NC_000013.11:g.20463469C>G	CRYL1	Modifier	Proteinuria	N/A
4003	rs4903539	N/A	NC_000014.9:g.77066345T>G	LINC02288	Modifier	Abnormal GFR	N/A
4004	rs7526762	N/A	NC_000001.11:g.74527634A>G	FPGT-TNNI3K	Modifier	Abnormal GFR	N/A
4050	rs766003	N/A	NC_000009.12:g.69865524G>A	CFAP95	Modifier	Severity	N/A
4053	rs6443662	N/A	NC_000003.12:g.179633577C>T	NDUFB5-USP13	Modifier	Severity	N/A
4056	rs234915	N/A	NC_000006.12:g.2209343T>G	GMDS	Modifier	Severity	N/A
2591	rs7163836	N/A	NC_000015.10:g.60348029C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A	0
2611	rs2148322	N/A	NC_000001.11:g.91656775A>C	TGFBR3	Modifier	Stroke	N/A	0
3475	rs1176758	N/A	NC_000011.10:g.113899633G>A	HTRB3	Modifier	Acute chest syndrome	N/A	0
3477	rs9927848	N/A	NC_000016.10:g.23821750C>A	CHP2-PRKCB	Modifier	Acute chest syndrome	N/A	0
3479	rs6141803	N/A	NC_000020.11:g.32752550T>C	COMMD7-DNMT3B	Modifier	Acute chest syndrome	N/A	0
3519	rs11859733	N/A	NC_000016.10:g.58297869T>C	PRSS54-RNU6-269P	Modifier	Abnormal red blood cell count	N/A	0
3520	rs8070454	N/A	NC_000017.11:g.40004501C>T	PSMD3-CSF3	Modifier	Abnormal white blood cell count	N/A	0
3526	rs9760319	N/A	NC_000004.12:g.137491375A>G	RPS23P2-PCDH18	Modifier	Abnormal white blood cell count	N/A	0
3531	rs9277053	N/A	NC_000006.12:g.33038445G>A	HLA-DOA-HLA-DPA1	Modifier	Abnormal platelet count	N/A	0
3541	rs7938426	N/A	NC_000011.10:g.5450602A>G	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3542	rs7948471	N/A	NC_000011.10:g.5450516G>A	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3544	rs1526083	N/A	NG_050579.1:g.9354A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3545	rs12536620	N/A	NG_050579.1:g.44506A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0

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