DisGeNET - a database of gene-disease associations

List of associated variants

Tetralogy of Fallot, C0039685

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
rs4841587	GATA4	1.000	0.080	8	11756666	non coding transcript exon variant	G/T	snv		0.37	3
rs4841588	GATA4	1.000	0.080	8	11756716	non coding transcript exon variant	G/T	snv		0.19	3
rs1185861796	GATA4	1.000	0.080	8	11758339	missense variant	C/A	snv	8.0E-06	7.0E-06	2
rs864321699	GATA4	1.000	0.080	8	11708337	missense variant	G/A;C	snv			2
rs771792843	GATA4	1.000	0.080	8	11749060	missense variant	C/T	snv	4.0E-06		1
rs387906816	GATA6	0.882	0.080	18	22171695	missense variant	G/A	snv	8.4E-04	1.5E-04	4
rs387906818	GATA6	0.882	0.120	18	22181516	missense variant	C/T	snv			3
rs368858287	GATA6	1.000	0.080	18	22200684	missense variant	G/C;T	snv		1.4E-05	1
rs387906814	GATA6	1.000	0.080	18	22171736	missense variant	C/G	snv	6.6E-05	6.7E-04	1
rs121434424	GDF1 ; CERS1	1.000	0.080	19	18869231	missense variant	C/A;T	snv	2.1E-04		1
rs864622513	GDF1 ; CERS1	1.000	0.080	19	18868791	missense variant	A/G	snv	1.1E-03	1.1E-04	1
rs7982677	GPC5	1.000	0.080	13	92336070	intron variant	C/A	snv		0.29	1
rs4771856	GPC5 ; GPC5-AS2	1.000	0.080	13	92342256	intron variant	C/A	snv		0.29	1
rs1556165162	HDAC8	0.882	0.120	X	72572657	frameshift variant	GG/-	delins			7
rs11066188	HECTD4	0.851	0.320	12	112172910	intron variant	G/A;C	snv	0.30; 4.1E-06		7
rs28939668	JAG1	0.807	0.200	20	10652533	missense variant	C/T	snv			6
rs121918351	JAG1	0.882	0.240	20	10658611	missense variant	C/T	snv			3
rs145895196	JAG1	0.925	0.120	20	10641566	missense variant	C/A;T	snv	1.6E-05; 1.9E-03		2
rs769531968	JAG1	0.925	0.120	20	10643807	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs1131695	JAG1	1.000	0.080	20	10652589	stop gained	G/A;C;T	snv	0.46		1
rs2388896	LINC02676	1.000	0.080	10	8912261	intron variant	A/G	snv		0.64	1
rs139365823	MIR138-2	0.925	0.080	16	56858519	non coding transcript exon variant	G/A;C;T	snv	4.1E-06; 2.9E-05		2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs17696736	NAA25	0.827	0.240	12	112049014	intron variant	A/G	snv		0.30	18