DisGeNET - a database of gene-disease associations

List of associated variants

cardiac event, C0741923

Source: ALL

Results per page

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
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs16847548		0.807	0.120	1	162065484	upstream gene variant	T/C	snv		0.22	8
rs2106809	ACE2	0.827	0.120	X	15599938	intron variant	A/G	snv		0.19	8
rs342293	CTB-30L5.1	0.882	0.040	7	106731773	intron variant	C/G	snv		0.42	7
rs12720459	KCNQ1	0.807	0.160	11	2583535	missense variant	C/A;G;T	snv			7
rs10494366	LOC105371475 ; NOS1AP	0.851	0.200	1	162115895	intron variant	G/T	snv		0.54	7
rs12050217	BDKRB1	0.827	0.160	14	96262416	intron variant	A/G	snv		0.21	6
rs12746200	PLA2G4A	0.851	0.160	1	186880054	intron variant	A/G	snv		7.3E-02	6
rs199472921	KCNH2	0.882	0.120	7	150951712	missense variant	C/G;T	snv			5
rs199472678	KCNQ1	0.925	0.120	11	2445430	missense variant	A/G	snv	8.9E-06		3
rs2074238	KCNQ1	1.000	0.120	11	2463573	intron variant	T/A;C	snv			3
rs199472742	KCNQ1	1.000	0.120	11	2572982	missense variant	G/T	snv			2
rs11772585	AKAP9			7	91952189	intron variant	C/T	snv		0.11	1
rs2282972	AKAP9			7	92037055	intron variant	C/G;T	snv			1
rs7808587	AKAP9			7	91990782	intron variant	G/A	snv		0.57	1
rs8234	KCNQ1-AS1 ; KCNQ1			11	2848878	3 prime UTR variant	A/G	snv	0.45	0.38	1
rs10798	KCNQ1 ; KCNQ1-AS1			11	2848935	3 prime UTR variant	A/G	snv	0.44	0.38	1