DisGeNET - a database of gene-disease associations

List of associated variants

Deep Vein Thrombosis, C0149871

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
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
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
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
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
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
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
rs4149584	TNFRSF1A	0.683	0.440	12	6333477	missense variant	C/G;T	snv	4.0E-06; 1.3E-02		24
rs5985	F13A1	0.724	0.280	6	6318562	missense variant	C/A;T	snv	0.20; 2.4E-05		20
rs1183194405	F2	0.716	0.440	11	46719773	missense variant	G/A;T	snv	4.5E-06; 4.5E-06		19
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
rs3742264	CPB2 ; CPB2-AS1	0.742	0.400	13	46073959	missense variant	C/T	snv	0.31	0.35	17
rs552953108	F2	0.724	0.200	11	46729529	missense variant	G/A	snv	1.6E-05	4.2E-05	16