IthaGenes

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Showing all entries with clinican phenotype Osteonecrosis/Avascular necrosis (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2589	rs576404	N/A	NG_011485.1:g.7530C>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	7530
2588	rs499091	N/A	NG_011485.1:g.8586A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	8586
2587	rs2238166	N/A	NG_011485.1:g.9111C>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9111
2586	rs211234	N/A	NG_011485.1:g.9558G>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9558
2578	rs211235	N/A	NG_011485.1:g.9630T>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9630
2585	rs211239	N/A	NG_011485.1:g.10619A>G	KL	Modifier	Osteonecrosis/Avascular necrosis, Priapism	NG_011485.1	10619
2584	rs565587	N/A	NG_011485.1:g.14089A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	14089
2583	rs516306	N/A	NG_011485.1:g.14707T>C	KL	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	14707
2577	rs480780	N/A	NG_011485.1:g.21749G>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	21749
2581	rs685417	N/A	NG_011485.1:g.27562G>A	KL	Modifier	Hb F levels, Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	27562
2580	rs2149860	N/A	NG_011485.1:g.43419A>G	KL	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	43419
2606	rs284157	N/A	NG_027757.1:g.104640G>A	TGFBR3	Modifier	Osteonecrosis/Avascular necrosis, Acute chest syndrome	NG_027757.1	104640
2604	rs1019856	N/A	NG_007490.1:g.53823T>C	TGFBR2	Modifier	Stroke, Leg ulcers, Osteonecrosis/Avascular necrosis	NG_007490.1	53823
2605	rs934328	N/A	NG_007490.1:g.64751G>A	TGFBR2	Modifier	Osteonecrosis/Avascular necrosis	NG_007490.1	64751
2601	rs538874	N/A	NG_029752.2:g.566235C>T	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	566235
2602	rs475303	N/A	NG_029752.2:g.575929A>G	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	575929
2592	rs5369	N/A	NG_016196.1:g.8730A>G	EDN1	Modifier	Osteonecrosis/Avascular necrosis	NG_016196.1	8730
2597	rs212527	N/A	NG_013008.1:g.92021G>A	ECE1	Modifier	Osteonecrosis/Avascular necrosis	NG_013008.1	92021
2596	rs2836430	N/A	NG_029732.1:g.189152A>C	ERG	Modifier	Osteonecrosis/Avascular necrosis	NG_029732.1	189152
2595	rs979091	N/A	NG_029732.1:g.240941G>T	ERG	Modifier	Osteonecrosis/Avascular necrosis	NG_029732.1	240941
2572	rs1801133 (C677T)	N/A	NG_013351.1:g.14783C>T	MTHFR	Modifier	Pain, Abnormal circulating homocysteine concentration, Osteonecrosis/Avascular necrosis	NG_013351.1	14783
2921	rs1143634 (+3954 C>T)	N/A	NG_008851.1:g.8967C>T	IL1B	Modifier	Reticulocytopenia, Pulmonary arterial hypertension, Osteonecrosis/Avascular necrosis	NG_008851.1	8967
2760	rs270393	N/A	NC_000006.12:g.7768619G>C	BMP6	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2764	rs3812163	N/A	NC_000006.12:g.7725527A>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2763	rs1225934	N/A	NC_000006.12:g.7877186A>C	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Pulmonary arterial hypertension, Stroke, Osteonecrosis/Avascular necrosis	N/A
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Pulmonary arterial hypertension, Stroke, Osteonecrosis/Avascular necrosis	N/A
2758	rs9920494 (hCV1571628)	N/A	NC_000015.10:g.60313715T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2754	rs11853426 (hCV26910500)	N/A	NC_000015.10:g.60317231C>T	ANXA2	Modifier	Stroke, Osteonecrosis/Avascular necrosis	N/A
2753	rs1033028	N/A	NC_000015.10:g.60324736T>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
2751	rs7170421 (hCV11770326)	N/A	NC_000015.10:g.60341947C>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2746	rs7985485 (hCV3118898)	N/A	NC_000013.11:g.32786336C>A	PDS5B	Modifier	Osteonecrosis/Avascular necrosis, Leg ulcers	N/A
2603	rs648464	N/A	NC_000013.11:g.33093328G>A	STARD13	Modifier	Osteonecrosis/Avascular necrosis	N/A
2591	rs7163836	N/A	NC_000015.10:g.60348029C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A	0
3625	rs2154586	N/A	NC_000021.9:g.46603603G>A	S100B	Modifier	Osteonecrosis/Avascular necrosis	NM_006272.3

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