DisGeNET - a database of gene-disease associations

List of associated variants

Congenital heart disease, C0152021

Source: INFERRED ×

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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
rs1060499547	ABL1	1.000		9	130862890	missense variant	A/G	snv			4
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	1
rs745379	GATA4			8	11758186	intron variant	A/G	snv		0.39	1
rs12458	C8orf49 ; GATA4			8	11759731	3 prime UTR variant	A/T	snv		0.35	1
rs864321700	GATA4			8	11708695	missense variant	A/T	snv			1
rs864321701	GATA4			8	11708709	missense variant	A/T	snv			1
rs16835979	STX18-AS1	0.851	0.120	4	4633549	intron variant	C/A	snv		0.20	1
rs864321645	NKX2-5			5	173233210	splice acceptor variant	C/A	snv			1
rs864321703	GATA4			8	11708339	missense variant	C/A	snv			1
rs804280	GATA4	0.882	0.120	8	11755189	intron variant	C/A;G	snv			1
rs76216585	POC1B	0.807	0.160	12	89492071	stop gained	C/A;G;T	snv	8.5E-06; 2.7E-04		5
rs116052854	GATA4			8	11757212	intron variant	C/A;T	snv			1
rs864321698	GATA4			8	11708335	missense variant	C/A;T	snv			1
rs886037834	PKD1L1	0.827	0.160	7	47846960	missense variant	C/G	snv		7.0E-06	5
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	1
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			4
rs870142	STX18-AS1	0.851	0.120	4	4646320	intron variant	C/G;T	snv			2
rs12156163	GATA4			8	11757260	intron variant	C/G;T	snv			1
rs387906769	GATA4	0.807	0.080	8	11708799	missense variant	C/T	snv	7.3E-05	4.2E-05	3
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	1
rs6824295	STX18-AS1	0.851	0.120	4	4612553	intron variant	C/T	snv		0.20	1
rs864321648	NKX2-5			5	173233153	missense variant	C/T	snv			1
rs864321704	GATA4			8	11758409	synonymous variant	C/T	snv			1
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6