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
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14
rs699473	SOD3	0.827	0.160	4	24795181	intron variant	C/T	snv		0.54	5
rs2077777	RBPJ	1.000	0.120	4	26322296	splice region variant	G/C	snv		8.9E-02	1
rs2270226	RBPJ	1.000	0.120	4	26415514	missense variant	T/A;C;G	snv	0.57		1
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
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
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs529038	ROS1	0.827	0.120	6	117301070	missense variant	C/G;T	snv	0.20	0.19	6
rs619203	ROS1	0.851	0.160	6	117301021	missense variant	G/C	snv	0.20	0.19	6
rs774229224	PLG	0.882	0.160	6	160706454	missense variant	C/A;G	snv	4.0E-06; 4.0E-06		6
rs750272074	ROS1	1.000	0.120	6	117362705	synonymous variant	A/G	snv	4.0E-06		2
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs2227631	SERPINE1	0.742	0.200	7	101126257	upstream gene variant	A/G	snv		0.54	13
rs55951658	CYP3A4	0.827	0.200	7	99770202	missense variant	T/A;C	snv	4.1E-04	9.8E-05	7
rs710968	LIMK1	0.925	0.120	7	74083398	intron variant	A/G	snv		0.75	2
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223