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
rs2227631	SERPINE1	0.742	0.200	7	101126257	upstream gene variant	A/G	snv		0.54	13
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs1050283	OLR1	0.882	0.160	12	10159690	3 prime UTR variant	G/A	snv		0.40	4
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs6218	LINC02456 ; HELLPAR ; IGF1	0.732	0.440	12	102399855	3 prime UTR variant	A/G	snv		2.1E-02	13
rs978458	IGF1 ; LINC02456	0.925	0.120	12	102408461	intron variant	T/C	snv		0.69	2
rs2072592	IGF1 ; LINC02456	0.925	0.120	12	102419854	intron variant	C/T	snv		2.8E-02	2
rs7956547	IGF1	0.925	0.120	12	102465038	intron variant	T/C	snv		0.25	2
rs2162679	IGF1	0.851	0.240	12	102477481	intron variant	C/G;T	snv			6
rs2066715	ABCA1	0.807	0.160	9	104825752	missense variant	C/T	snv	8.2E-02	5.5E-02	7
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	16
rs5925	LDLR	0.851	0.200	19	11120205	synonymous variant	T/C	snv	0.42	0.37	7
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs494860	PCID2 ; PROZ	1.000	0.120	13	113164695	intron variant	T/A	snv	0.26	0.19	1
rs619203	ROS1	0.851	0.160	6	117301021	missense variant	G/C	snv	0.20	0.19	6
rs529038	ROS1	0.827	0.120	6	117301070	missense variant	C/G;T	snv	0.20	0.19	6
rs750272074	ROS1	1.000	0.120	6	117362705	synonymous variant	A/G	snv	4.0E-06		2
rs1927911	TLR4	0.658	0.640	9	117707776	intron variant	A/G	snv		0.62	28
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs4245191	NLRX1	0.925	0.200	11	119182117	missense variant	C/A	snv	0.56	0.57	2
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36