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
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	17
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs886037834	PKD1L1	0.827	0.160	7	47846960	missense variant	C/G	snv		7.0E-06	5
rs76216585	POC1B	0.807	0.160	12	89492071	stop gained	C/A;G;T	snv	8.5E-06; 2.7E-04		5
rs1060499547	ABL1	1.000		9	130862890	missense variant	A/G	snv			4
rs28936670	NKX2-5	0.708	0.280	5	173235011	missense variant	G/A	snv	3.4E-03	1.1E-02	4
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			4
rs387906769	GATA4	0.807	0.080	8	11708799	missense variant	C/T	snv	7.3E-05	4.2E-05	3
rs121965033	IDUA	0.925	0.120	4	1002333	missense variant	T/C;G	snv	4.0E-06		2
rs870142	STX18-AS1	0.851	0.120	4	4646320	intron variant	C/G;T	snv			2
rs12458	C8orf49 ; GATA4			8	11759731	3 prime UTR variant	A/T	snv		0.35	1
rs549543886	C8orf49 ; GATA4			8	11759643	3 prime UTR variant	T/C	snv		2.2E-03	1
rs10503425	GATA4			8	11748855	intron variant	G/A;C	snv			1
rs113049875	GATA4			8	11755236	intron variant	G/A;C;T	snv			1
rs116052854	GATA4			8	11757212	intron variant	C/A;T	snv			1
rs12156163	GATA4			8	11757260	intron variant	C/G;T	snv			1
rs147860174	GATA4			8	11750261	intron variant	G/A	snv	5.3E-03	5.4E-03	1
rs1554498312	GATA4			8	11754991	intron variant	T/C	snv			1
rs1554498708	GATA4			8	11756909	non coding transcript exon variant	G/A	snv			1
rs3729851	GATA4			8	11755333	intron variant	G/A	snv		9.3E-02	1
rs3735819	GATA4			8	11748803	intron variant	T/C	snv		0.80	1
rs745379	GATA4			8	11758186	intron variant	A/G	snv		0.39	1
rs804280	GATA4	0.882	0.120	8	11755189	intron variant	C/A;G	snv			1
rs864321698	GATA4			8	11708335	missense variant	C/A;T	snv			1