DisGeNET - a database of gene-disease associations

List of associated variants

Heart Diseases, C0018799

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs10911021	LOC105371642 ; LINC01344	0.807	0.160	1	182112825	intron variant	C/T	snv		0.36	11
rs17465637	MIA3	0.790	0.200	1	222650187	intron variant	A/C;G;T	snv	0.64; 6.4E-06		11
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs59270054	LMNA	0.925	0.120	1	156115162	missense variant	G/A;C	snv			6
rs11568023	AGT			1	230712433	intron variant	G/A;T	snv			1
rs373721390	LMNA			1	156114996	synonymous variant	C/T	snv	2.2E-05	2.8E-05	1
rs9818870	MRAS	0.807	0.200	3	138403280	3 prime UTR variant	C/A;T	snv			9
rs72546668	SSUH2 ; CAV3	0.807	0.200	3	8745644	missense variant	C/A;T	snv	4.0E-06; 2.6E-03		8
rs137854602	SCN5A	0.925	0.080	3	38555664	missense variant	G/A	snv	5.6E-05	1.4E-05	5
rs137854607	SCN5A	0.882	0.120	3	38554309	missense variant	C/G;T	snv			5
rs41310765	SCN5A	0.882	0.120	3	38575424	missense variant	G/A	snv	1.4E-04	7.7E-05	5
rs139794067	MYL3	0.925	0.080	3	46860813	missense variant	G/A;C;T	snv	7.2E-05; 1.7E-04		3
rs121909298	SGCD	0.925	0.040	5	156595000	missense variant	T/G	snv	2.0E-04	1.3E-04	4
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs3853601	DDX39B ; ATP6V1G2-DDX39B	1.000	0.080	6	31531826	intron variant	C/G	snv		0.13	2
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs7493	PON2	0.677	0.440	7	95405463	missense variant	G/C	snv	0.27	0.27	24
rs199472968	KCNH2	0.925	0.120	7	150951484	missense variant	C/T	snv			3