DisGeNET - a database of gene-disease associations

List of associated variants

Cerebral Infarction, C0007785

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
rs55951658	CYP3A4	0.827	0.200	7	99770202	missense variant	T/A;C	snv	4.1E-04	9.8E-05	7
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs3789683	F3	0.925	0.200	1	94530506	missense variant	C/T	snv	6.5E-03	1.0E-02	3
rs121918474	PROS1	0.763	0.320	3	93905799	missense variant	T/C	snv	2.8E-05	1.4E-05	11
rs1801273	FABP1	0.925	0.200	2	88126256	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs710968	LIMK1	0.925	0.120	7	74083398	intron variant	A/G	snv		0.75	2
rs10898909	P2RY2	0.925	0.120	11	73241451	non coding transcript exon variant	G/A	snv		0.21	2
rs4382936	P2RY2	1.000	0.120	11	73241355	non coding transcript exon variant	A/C	snv		0.36	1
rs4944832	P2RY2	1.000	0.120	11	73238127	upstream gene variant	G/A;T	snv			1
rs2106261	ZFHX3	0.763	0.160	16	73017721	intron variant	C/G;T	snv			11
rs11833579		0.827	0.200	12	666033	upstream gene variant	G/A	snv		0.25	6
rs4919862	BSG	1.000	0.120	19	582253	intron variant	T/C	snv		0.82	1
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs9333025	CYP4A11	0.851	0.200	1	46931231	intron variant	C/T	snv		9.4E-02	8
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs12659	SLC19A1	0.925	0.120	21	45531642	synonymous variant	A/G	snv	0.58	0.57	2
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs755403632	BMS1	1.000	0.120	10	42792991	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		1
rs13412	P3H4 ; FKBP10	1.000	0.120	17	41811190	missense variant	T/A;C	snv	0.38	0.34	1