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
rs4147064	ALOX5AP	1.000	0.120	13	30745981	intron variant	T/C	snv		0.50	2
rs710968	LIMK1	0.925	0.120	7	74083398	intron variant	A/G	snv		0.75	2
rs7956547	IGF1	0.925	0.120	12	102465038	intron variant	T/C	snv		0.25	2
rs978458	IGF1 ; LINC02456	0.925	0.120	12	102408461	intron variant	T/C	snv		0.69	2
rs10780199	CACNA1B	1.000	0.120	9	138058845	intron variant	G/A	snv		0.36	1
rs11137351	CACNA1B ; LOC101928786	1.000	0.120	9	138045676	intron variant	C/G	snv		0.23	1
rs2275235	CTSS	1.000	0.120	1	150757803	intron variant	A/G	snv		0.34	1
rs4769055	ALOX5AP	1.000	0.120	13	30735693	intron variant	C/A	snv	0.41	0.47	1
rs4806942	GIPC3	1.000	0.120	19	3589341	intron variant	G/A	snv		0.13	1
rs4919862	BSG	1.000	0.120	19	582253	intron variant	T/C	snv		0.82	1
rs494860	PCID2 ; PROZ	1.000	0.120	13	113164695	intron variant	T/A	snv	0.26	0.19	1
rs56095120	SMTN	1.000	0.120	22	31100540	intron variant	T/A;C	snv			1
rs7042521	CACNA1B ; LOC100133077	1.000	0.120	9	137889440	intron variant	C/G	snv		0.31	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
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
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102