DisGeNET - a database of gene-disease associations

List of associated variants

Ischemic stroke, C0948008

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs7248488	ZNF208	0.851	0.160	19	22005907	intron variant	A/C	snv		0.59	5
rs2188971	ZNF208	0.925	0.080	19	21969380	3 prime UTR variant	T/A;C	snv			2
rs2188972	ZNF208	1.000	0.080	19	21966656	3 prime UTR variant	A/G	snv		0.34	1
rs3826392	ZNF18 ; MAP2K4	0.827	0.200	17	12019587	intron variant	G/T	snv		0.65	5
rs7193343	ZFHX3	0.882	0.120	16	72995261	intron variant	T/A;C	snv			3
rs879324	ZFHX3	1.000	0.080	16	73034779	intron variant	G/A	snv		0.17	2
rs7202008	ZDHHC7	1.000	0.080	16	84985897	intron variant	A/C	snv		1.2E-02	1
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs1396616608	YY1AP1	1.000	0.080	1	155660237	frameshift variant	G/-	delins		7.0E-06	1
rs766981144	YY1AP1	1.000	0.080	1	155668643	missense variant	G/A	snv	1.6E-05		1
rs17118	XYLB	0.925	0.120	3	38362981	missense variant	C/A;T	snv	0.29		4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs7819412	XKR6	0.827	0.120	8	11187652	intron variant	G/A;T	snv			6
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs1292037	VMP1 ; MIR21	0.827	0.200	17	59841547	3 prime UTR variant	T/C	snv		0.18	6
rs9923231	VKORC1	0.851	0.200	16	31096368	upstream gene variant	C/A;G;T	snv			6
rs9934438	VKORC1	1.000	0.080	16	31093557	5 prime UTR variant	G/A;C	snv			1
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs10204475	UBR3	1.000	0.080	2	170076012	intron variant	T/G	snv		0.78	1
rs17490626	TSPAN15	0.882	0.120	10	69458890	intron variant	G/C	snv		8.4E-02	5
rs231150	TRPS1	0.925	0.080	8	115408099	downstream gene variant	A/T	snv		0.55	2
rs2274924	TRPM6	0.851	0.160	9	74761731	missense variant	T/C	snv	0.20	0.23	6
rs5030411	TRAF6 ; RAG1	1.000	0.080	11	36512203	intron variant	G/A	snv		0.49	2
rs5030416	TRAF6 ; RAG1	1.000	0.080	11	36510938	non coding transcript exon variant	T/A;G	snv			1