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
rs200786329	COL4A1	0.925		13	110201467	missense variant	G/A	snv	5.2E-05	1.7E-04	3
rs397514624	COL4A1	0.925		13	110187254	missense variant	G/A;C;T	snv	1.6E-05; 4.0E-06		3
rs516115	DCN			12	91163515	intron variant	T/C	snv		0.38	1
rs563985037	TTC21A ; GORASP1			3	39107505	missense variant	C/T	snv		4.2E-05	1
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
rs2968915	ATP6AP2	1.000	0.040	X	40580182	intron variant	G/A	snv			3
rs5049	AGT	1.000	0.040	1	230714337	intron variant	C/T	snv		0.16	3
rs1800576	THBD	0.925	0.080	20	23049378	missense variant	C/T	snv	2.0E-03	2.5E-03	4
rs6053666	SRXN1	0.925	0.080	20	648246	3 prime UTR variant	T/C	snv	0.35	0.39	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
rs544456198	LDLR	0.790	0.120	19	11116930	missense variant	G/T	snv	8.0E-06	2.8E-05	9
rs2359612	VKORC1	0.851	0.120	16	31092475	intron variant	A/G	snv		0.66	7
rs371237692	REN	0.925	0.120	1	204159515	synonymous variant	A/G	snv	8.0E-06	3.5E-05	5
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
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
rs1411224107	SERPINE1	0.882	0.160	7	101128439	missense variant	C/T	snv		7.0E-06	4
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
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
rs9923231	VKORC1	0.851	0.200	16	31096368	upstream gene variant	C/A;G;T	snv			6
rs148158093	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101403828	missense variant	G/A	snv	2.2E-04	4.0E-04	3