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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs9333025	CYP4A11	0.851	0.200	1	46931231	intron variant	C/T	snv		9.4E-02	8
rs3783613	VCAM1	0.851	0.200	1	100731231	missense variant	G/A;C	snv	4.0E-06; 9.9E-03		6
rs371237692	REN	0.925	0.120	1	204159515	synonymous variant	A/G	snv	8.0E-06	3.5E-05	5
rs9332978	CYP4A11	0.882	0.040	1	46942278	upstream gene variant	T/C	snv		7.3E-02	5
rs1126742	CYP4A11	0.925	0.040	1	46932824	missense variant	A/G	snv	0.17	0.20	4
rs5049	AGT	1.000	0.040	1	230714337	intron variant	C/T	snv		0.16	3
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs3732378	CX3CR1	0.620	0.720	3	39265671	missense variant	G/A	snv	0.14	0.12	48
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs563985037	TTC21A ; GORASP1			3	39107505	missense variant	C/T	snv		4.2E-05	1
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs4961	ADD1	0.683	0.400	4	2904980	missense variant	G/A;T	snv	1.2E-05; 0.20		27
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs5985	F13A1	0.724	0.280	6	6318562	missense variant	C/A;T	snv	0.20; 2.4E-05		20
rs774229224	PLG	0.882	0.160	6	160706454	missense variant	C/A;G	snv	4.0E-06; 4.0E-06		6
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157