DisGeNET - a database of gene-disease associations

List of associated variants

Ischemic stroke, C0948008

Source: CLINVAR ×

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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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		10
rs137929307	LDLR	0.752	0.240	19	11116928	missense variant	G/A	snv	4.4E-05	4.9E-05	10
rs139043155	LDLR	0.790	0.200	19	11106668	missense variant	T/A	snv	3.2E-05	4.2E-05	10
rs193922219	FBN1	0.763	0.280	15	48446701	splice region variant	C/A;T	snv			9
rs28942084	LDLR	0.763	0.200	19	11120436	missense variant	C/A;T	snv	2.8E-05	4.2E-05	9
rs750518671	LDLR	0.790	0.200	19	11128085	missense variant	G/A;C;T	snv	8.0E-06		9
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs373822756	LDLR	0.807	0.200	19	11105568	missense variant	A/G;T	snv	5.2E-05		8
rs28942080	LDLR ; MIR6886	0.807	0.200	19	11113743	missense variant	G/A;C;T	snv	1.2E-05; 4.0E-06		8
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs11547917	LDLR	0.807	0.200	19	11107491	stop gained	C/A;G;T	snv			7
rs879254965	LDLR	0.827	0.200	19	11116140	missense variant	G/A;C;T	snv			7
rs570942190	MIR6886 ; LDLR	0.827	0.200	19	11113337	missense variant	C/T	snv	2.4E-05	7.0E-06	7
rs1799963	F2	0.695	0.400	11	46739505	3 prime UTR variant	G/A	snv		9.6E-03	6
rs121908026	LDLR	0.851	0.160	19	11105436	missense variant	C/T	snv	1.6E-05	3.5E-05	6
rs121908031	LDLR	0.851	0.160	19	11120425	stop gained	C/A;G	snv	8.0E-06		6
rs267607213	LDLR	0.851	0.160	19	11100286	stop gained	G/A;T	snv			6
rs879254712	LDLR	0.827	0.200	19	11107470	frameshift variant	C/-	del			6
rs879255038	LDLR	0.851	0.160	19	11116982	missense variant	C/G;T	snv	4.0E-06		6
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	5
rs121908027	LDLR	0.882	0.160	19	11105557	inframe deletion	TGG/-	delins			5
rs121908035	LDLR	0.882	0.160	19	11105599	stop gained	C/A;G	snv			5
rs146651743	LDLR	0.851	0.160	19	11107402	stop gained	C/A;G;T	snv	2.5E-04		5
rs730882090	LDLR	0.882	0.160	19	11107420	missense variant	C/A	snv	4.0E-06	7.0E-06	5
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		5