IthaGenes

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Showing all entries with clinican phenotype Stroke (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2071	rs1427407	N/A	NG_011968.1:g.67591A>C	BCL11A	Modifier	Anaemia, Hb F levels, Reticulocytopenia, Reticulocytosis, Abnormal white blood cell count, Abnormal platelet count, F-cell numbers, Bilirubin levels, Vaso-occlusive crisis, Hb F response to hydroxyurea, Stroke, Pain	NG_011968.1	67591
2120	-495 (A>T) (rs2071746)	N/A	NG_023030.1:g.4613A>T	HMOX1	Modifier	Hb F levels, Stroke, Vaso-occlusive crisis	NG_023030.1	4613
2593	rs73885319 (APOL1 G1)	N/A	NG_023228.1:g.17790A>G	APOL1	Modifier	Stroke, Abnormal GFR, Proteinuria, Focal segmental glomerulosclerosis, Albuminuria	NG_023228.1	17790
2773	rs2238426	N/A	NC_000016.10:g.3953732A>G	ADCY9	Modifier	Stroke	NG_011434.1
2772	rs437115	N/A	NG_011434.1:g.14764A>G	ADCY9	Modifier	Stroke	NG_011434.1	14764
2654	rs2283497	N/A	NG_011434.1:g.105126C>A	ADCY9	Modifier	Stroke	NG_011434.1	105126
2653	rs2072338	N/A	NG_011434.1:g.114260T>C	ADCY9	Modifier	Stroke	NG_011434.1	114260
2651	rs2238432	N/A	NG_011434.1:g.157046C>T	ADCY9	Modifier	Stroke	NG_011434.1	157046
2610	rs284875	N/A	NG_027757.1:g.205852T>C	TGFBR3	Modifier	Stroke	NG_027757.1	205852
2612	rs2007686	N/A	NG_027757.1:g.214117G>A	TGFBR3	Modifier	Stroke	NG_027757.1	214117
2613	rs2765888	N/A	NG_027757.1:g.214268G>A	TGFBR3	Modifier	Stroke, Bacteremia	NG_027757.1	214268
2652	rs489347	N/A	NG_011828.1:g.83070C>G	TEK	Modifier	Stroke	NG_011828.1	83070
3549	27bp-VNTR (eNOS4a/b)	N/A	NG_011992.1:g.11166_11192[4]	NOS3	Modifier	Abnormal neutrophil cell number, Red blood cell aggregation, Stroke, Pulmonary arterial hypertension, Vaso-occlusive crisis	NG_011992.1	11166
2604	rs1019856	N/A	NG_007490.1:g.53823T>C	TGFBR2	Modifier	Leg ulcers, Stroke, Osteonecrosis/Avascular necrosis	NG_007490.1	53823
2929	rs3773658	N/A	NG_007490.1:g.81443A>G	TGFBR2	Modifier	Stroke	NG_007490.1	81443
2928	rs876687	N/A	NG_007490.1:g.82652T>C	TGFBR2	Modifier	Stroke	NG_007490.1	82652
2657	rs3753306	N/A	NG_012125.1:g.4146A>G	SELP	Modifier	Stroke	NG_012125.1	4146
2656	rs3917733	N/A	NG_012125.1:g.23868G>A	SELP	Modifier	Stroke	NG_012125.1	23868
2655	rs2420378	N/A	NG_012125.1:g.34460T>A	SELP	Modifier	Stroke	NG_012125.1	34460
2599	rs212531	N/A	NG_013008.1:g.88757C>T	ECE1	Modifier	Stroke	NG_013008.1	88757
2598	rs212528	N/A	NG_013008.1:g.91374A>G	ECE1	Modifier	Stroke	NG_013008.1	91374
3898	rs1409419	N/A	NC_000001.11:g.100717840T>C	VCAM1	Modifier	Stroke	NG_023034.2	3100
2665	rs1041163 (−1594T>C)	N/A	NG_023034.2:g.3529T>C	VCAM1	Modifier	Stroke	NG_023034.2	3529
2667	rs3783613 (G1238C)	N/A	NG_023034.2:g.16491G>C	VCAM1	Modifier	Stroke	NG_023034.2	16491
2658	rs989554	N/A	NG_029732.1:g.251778C>T	ERG	Modifier	Stroke	NG_029732.1	251778
2659	rs1042714 (Q27E)	N/A	NG_016421.1:g.5318C>G	ADRB2	Modifier	Stroke	NG_016421.1	5318
2894	rs5742911	N/A	NG_009060.1:g.48389A>G	LDLR	Modifier	Stroke	NG_009060.1	48389
2668	rs1800629 (–308G>A)	N/A	NG_007462.1:g.4682G>A	TNF	Modifier	Decreased serum ferritin, Stroke	NG_007462.1	4682
2666	rs3025058 (MMP3 -1171insA , -1171 5A/6A MMP-3)	N/A	NG_012100.1:g.3394_3395insT	MMP3	Modifier	Stroke	NG_012100.1	3394
2660	rs1805015	N/A	NG_012086.1:g.53930T>C	IL4R	Modifier	Stroke	NG_012086.1	53930
2661	rs730012	N/A	NG_028161.1:g.4653A>C	LTC4S	Modifier	Stroke	NG_028161.1	4653
2778	rs38850	N/A	NG_008996.1:g.30191G>A	MET	Modifier	Stroke	NG_008996.1	30191
2779	rs38859	N/A	NG_008996.1:g.71636C>T	MET	Modifier	Stroke	NG_008996.1	71636
2780	rs4586	N/A	NG_012123.1:g.5974T>C	CCL2	Modifier	Stroke	NG_012123.1	5974
2781	rs25882	N/A	NG_033024.1:g.6976T>C	CSF2	Modifier	Stroke	NG_033024.1	6976
2923	rs1800795 (-174G>C)	N/A	NG_011640.1:g.4880C>G	IL6	Modifier	Leg ulcers, Stroke	NG_011640.1	4880
2931	rs1044498 (K173Q)	N/A	NG_008206.1:g.48213A>C	ENPP1	Modifier	Stroke	NG_008206.1	48213
2932	rs662 (Q192R)	N/A	NG_008779.1:g.21439A>G	PON1	Modifier	Stroke	NG_008779.1	21439
2942	rs699	N/A	NG_008836.1:g.9543T>C	AGT	Modifier	Stroke	NG_008836.1	9543
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Stroke, Osteonecrosis/Avascular necrosis, Pulmonary arterial hypertension	N/A
3909	rs10142478	N/A	NC_000014.9:g.21481668C>A	TOX4	Modifier	Stroke	N/A
3908	rs201658643	N/A	NC_000022.11:g.34468965_34468966dup	LOC105373012-LOC441996	Modifier	Stroke	N/A
2754	rs11853426 (hCV26910500)	N/A	NC_000015.10:g.60317231C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis, Stroke	N/A
2930	rs3732410 (Y1212C)	N/A	NC_000003.12:g.121696873T>C	GOLGB1	Modifier	Stroke	N/A
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2611	rs2148322	N/A	NC_000001.11:g.91656775A>C	TGFBR3	Modifier	Stroke	N/A	0
3580	rs1050828	N/A	NG_009015.2:g.16571G>A	G6PD	Modifier	Stroke	NG_009015.2	16571
3581	rs1050829	N/A	NG_009015.2:g.17296A>T \| NG_009015.2:g.17296A>G	G6PD	Modifier	Stroke	NG_009015.2	17296
3900	rs113276800	N/A	NC_000002.12:g.181457493C>A	ITGA4	Modifier	Stroke	NG_050623.1	5602
3899	rs3770138	N/A	NC_000002.12:g.181461180C>T	ITGA4	Modifier	Stroke	NG_050623.1	9289
3906	rs6930487	N/A	NC_000006.12:g.143540230G>A	PHACTR2	Modifier	Stroke	NM_001100164.2
3907	rs1557759	N/A	NC_000005.10:g.130208414A>G	CHSY3	Modifier	Stroke	NM_175856.5
3910	rs2250806	N/A	NC_000001.11:g.84130407A>G	PRKACB	Modifier	Stroke	NG_029728.1

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