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
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
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
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
rs1255283120	MTHFR	0.807	0.160	1	11792345	missense variant	G/A	snv	4.0E-06	7.0E-06	7
rs2227589	SERPINC1	0.925	0.120	1	173917078	intron variant	C/T	snv		9.6E-02	3
rs1164821473	F5	0.925	0.080	1	169546573	missense variant	T/A;C	snv			2
rs118203905	F5	1.000	0.040	1	169555300	missense variant	T/C	snv	6.9E-04	2.0E-04	2
rs121909567	SERPINC1	0.925	0.120	1	173914570	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs1487411568	ZBTB37 ; SERPINC1	0.925	0.120	1	173903969	missense variant	G/A;T	snv		7.0E-06	2
rs1203757587	MTHFR	1.000	0.040	1	11792279	missense variant	T/C	snv	4.0E-06		1
rs3138521	SERPINC1	1.000	0.040	1	173917605	upstream gene variant	CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT	delins			1
rs556266847	F5	1.000	0.040	1	169550655	missense variant	A/G	snv			1
rs13306190	APOB	0.807	0.320	2	21032408	missense variant	G/A;C;T	snv	1.7E-04; 8.0E-06		7
rs121918146	PROC ; LOC105373608	0.827	0.200	2	127428485	missense variant	G/A	snv	1.2E-05	2.1E-05	5
rs1799810	PROC	1.000	0.040	2	127418464	5 prime UTR variant	A/T	snv	0.38	0.44	5
rs72798544	COX7A2L	0.882	0.120	2	42372465	intron variant	T/G	snv		1.3E-02	5
rs121918156	LOC105373608 ; PROC	0.882	0.120	2	127427219	missense variant	C/T	snv			3
rs1553424043	MIR4783 ; PROC	0.925	0.120	2	127423123	missense variant	T/C	snv			3
rs1799808	PROC	1.000	0.040	2	127418286	upstream gene variant	C/T	snv		0.33	3
rs369504169	PROC	0.925	0.120	2	127421337	missense variant	G/A	snv	8.0E-06	7.0E-06	3
rs5940	LOC105373786 ; TFPI	0.882	0.080	2	187466977	missense variant	C/T	snv	1.3E-02	1.4E-02	3