DisGeNET - a database of gene-disease associations

List of associated variants

Factor V Leiden mutation, C0584960

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs5918	ITGB3	0.683	0.480	17	47283364	missense variant	T/C	snv	0.12	0.13	26
rs1799963	F2	0.695	0.400	11	46739505	3 prime UTR variant	G/A	snv		9.6E-03	25
rs1183194405	F2	0.716	0.440	11	46719773	missense variant	G/A;T	snv	4.5E-06; 4.5E-06		19
rs552953108	F2	0.724	0.200	11	46729529	missense variant	G/A	snv	1.6E-05	4.2E-05	16
rs121918474	PROS1	0.763	0.320	3	93905799	missense variant	T/C	snv	2.8E-05	1.4E-05	11
rs747418061	APC	0.807	0.200	5	112828920	missense variant	G/A	snv	3.2E-05	7.0E-06	10
rs2066865	FGG	0.807	0.240	4	154604124	downstream gene variant	G/A	snv		0.26	10
rs368927897	JAK2 ; INSL6	0.790	0.240	9	5072541	missense variant	G/A;T	snv	2.8E-05; 6.4E-05		9
rs13306190	APOB	0.807	0.320	2	21032408	missense variant	G/A;C;T	snv	1.7E-04; 8.0E-06		7
rs1312546120	F5	0.807	0.160	1	169541191	missense variant	T/C	snv	4.0E-06		7
rs1255283120	MTHFR	0.807	0.160	1	11792345	missense variant	G/A	snv	4.0E-06	7.0E-06	7