DisGeNET - a database of gene-disease associations

List of associated variants

Peripheral Arterial Diseases, C1704436

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			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
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs3732378	CX3CR1	0.620	0.720	3	39265671	missense variant	G/A	snv	0.14	0.12	48
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv			34
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30