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
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
rs28936670	NKX2-5	0.708	0.280	5	173235011	missense variant	G/A	snv	3.4E-03	1.1E-02	17
rs2277923	NKX2-5	0.752	0.160	5	173235021	synonymous variant	T/C	snv	0.41	0.44	13
rs104893904	NKX2-5	0.807	0.160	5	173235023	missense variant	C/G	snv	1.1E-03	7.1E-04	6
rs1554034812	NIPBL	0.925	0.240	5	37058938	frameshift variant	G/-	delins			3
rs104893902	NKX2-5	0.925	0.080	5	173232888	missense variant	G/A	snv		7.0E-06	2
rs104893905	NKX2-5	0.925	0.080	5	173232898	missense variant	G/A	snv	4.4E-06		2
rs201442000	NKX2-5	0.925	0.080	5	173235019	missense variant	T/C;G	snv	1.3E-04; 4.1E-06		2
rs12519770	ADGRV1	1.000	0.080	5	90777460	intron variant	A/G	snv		0.40	1
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs563655306	CITED2	0.925	0.080	6	139373371	missense variant	T/C	snv	3.2E-03	2.0E-03	2
rs1057515420	EPHB4	1.000	0.080	7	100819874	missense variant	G/A	snv			1
rs587783446	CHD7	0.763	0.280	8	60850546	stop gained	C/T	snv			19
rs387906769	GATA4	0.807	0.080	8	11708799	missense variant	C/T	snv	7.3E-05	4.2E-05	7
rs804280	GATA4	0.882	0.120	8	11755189	intron variant	C/A;G	snv			6
rs115099192	GATA4	0.827	0.080	8	11758366	missense variant	C/A;G	snv	5.1E-04; 6.8E-05		5
rs121908601	ZFPM2	0.851	0.080	8	105419192	missense variant	A/C;G	snv	4.0E-06; 2.7E-03		4
rs17153694	GATA4	0.851	0.160	8	11730972	intron variant	C/T	snv		0.12	4
rs187043152	ZFPM2 ; ZFPM2-AS1	0.851	0.080	8	105801714	missense variant	G/A;T	snv	3.4E-03; 4.0E-06		4