DisGeNET - a database of gene-disease associations

List of associated variants

Cerebrovascular Disorders, C0007820

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
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs1126742	CYP4A11	0.925	0.040	1	46932824	missense variant	A/G	snv	0.17	0.20	4
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs1411224107	SERPINE1	0.882	0.160	7	101128439	missense variant	C/T	snv		7.0E-06	4
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs146292819	ABCA1	0.790	0.240	9	104794495	missense variant	T/G	snv	2.9E-04	3.8E-04	9
rs148158093	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101403828	missense variant	G/A	snv	2.2E-04	4.0E-04	3
rs1558139	CYP4F2	0.851	0.160	19	15886754	intron variant	G/A	snv		0.46	6
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs1800576	THBD	0.925	0.080	20	23049378	missense variant	C/T	snv	2.0E-03	2.5E-03	4
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1926447	CPB2 ; CPB2-AS1	0.807	0.440	13	46055809	missense variant	A/G	snv	0.74	0.77	11
rs200786329	COL4A1	0.925		13	110201467	missense variant	G/A	snv	5.2E-05	1.7E-04	3
rs2108622	CYP4F2	0.742	0.280	19	15879621	missense variant	C/T	snv	0.27	0.22	20
rs2228314	SREBF2	0.790	0.360	22	41880738	missense variant	G/C	snv	0.34	0.38	8
rs2359612	VKORC1	0.851	0.120	16	31092475	intron variant	A/G	snv		0.66	7