DisGeNET - a database of gene-disease associations

List of associated variants

Cerebrovascular Disorders, C0007820

Source: ALL

Results per page

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
rs3742264	CPB2 ; CPB2-AS1	0.742	0.400	13	46073959	missense variant	C/T	snv	0.31	0.35	17
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
rs387906592	STAMBPL1 ; ACTA2	0.752	0.280	10	88941309	missense variant	C/T	snv			14
rs1926447	CPB2 ; CPB2-AS1	0.807	0.440	13	46055809	missense variant	A/G	snv	0.74	0.77	11
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
rs146292819	ABCA1	0.790	0.240	9	104794495	missense variant	T/G	snv	2.9E-04	3.8E-04	9
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs544456198	LDLR	0.790	0.120	19	11116930	missense variant	G/T	snv	8.0E-06	2.8E-05	9
rs9333025	CYP4A11	0.851	0.200	1	46931231	intron variant	C/T	snv		9.4E-02	8
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
rs1558139	CYP4F2	0.851	0.160	19	15886754	intron variant	G/A	snv		0.46	6
rs28357984	ND2 ; COX1	0.851	0.160	MT	5178	missense variant	C/A	snv			6
rs774229224	PLG	0.882	0.160	6	160706454	missense variant	C/A;G	snv	4.0E-06; 4.0E-06		6
rs3783613	VCAM1	0.851	0.200	1	100731231	missense variant	G/A;C	snv	4.0E-06; 9.9E-03		6
rs9923231	VKORC1	0.851	0.200	16	31096368	upstream gene variant	C/A;G;T	snv			6
rs9332978	CYP4A11	0.882	0.040	1	46942278	upstream gene variant	T/C	snv		7.3E-02	5
rs371237692	REN	0.925	0.120	1	204159515	synonymous variant	A/G	snv	8.0E-06	3.5E-05	5
rs1126742	CYP4A11	0.925	0.040	1	46932824	missense variant	A/G	snv	0.17	0.20	4
rs1411224107	SERPINE1	0.882	0.160	7	101128439	missense variant	C/T	snv		7.0E-06	4
rs1800576	THBD	0.925	0.080	20	23049378	missense variant	C/T	snv	2.0E-03	2.5E-03	4
rs5049	AGT	1.000	0.040	1	230714337	intron variant	C/T	snv		0.16	3
rs2968915	ATP6AP2	1.000	0.040	X	40580182	intron variant	G/A	snv			3