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
rs1057515420	EPHB4	1.000	0.080	7	100819874	missense variant	G/A	snv			1
rs1114167357	TPM1	1.000	0.080	15	63042945	splice donor variant	T/C	snv			1
rs1131695	JAG1	1.000	0.080	20	10652589	stop gained	G/A;C;T	snv	0.46		1
rs115875978	ALDH1A2	1.000	0.080	15	58010691	missense variant	C/A;T	snv	5.9E-04; 4.0E-06		1
rs121434424	GDF1 ; CERS1	1.000	0.080	19	18869231	missense variant	C/A;T	snv	2.1E-04		1
rs1445910672	TBX1	1.000	0.080	22	19761255	stop gained	G/A;T	snv			1
rs1448468136	ZFPM2 ; ZFPM2-AS1	1.000	0.080	8	105802610	missense variant	C/A;T	snv			1
rs149655951	ALDH1A2	1.000	0.080	15	57992742	missense variant	A/G	snv	4.0E-06		1
rs1569484042	ND2 ; COX1 ; COX2	1.000	0.080	MT	5954	frameshift variant	A/-	del			1
rs1569484120	COX2 ; COX1 ; ATP8 ; ATP6	1.000	0.080	MT	6887	inframe insertion	-/GGG	delins			1
rs1569484122	ATP8 ; ATP6 ; COX1 ; COX2	1.000	0.080	MT	6900	frameshift variant	A/-	delins			1
rs1569484126	ATP6 ; COX2 ; COX1 ; ATP8	1.000	0.080	MT	6939	frameshift variant	T/-	delins			1
rs1569484164	COX2 ; COX1 ; ATP6 ; ATP8 ; COX3	1.000	0.080	MT	7638	frameshift variant	A/-	delins			1
rs1569484288	ATP6 ; ND4L ; ND4 ; ND3 ; COX3	1.000	0.080	MT	9273	protein altering variant	-/ATC	ins			1
rs1569484299	COX3 ; ND4 ; ND4L ; ND3 ; ATP6	1.000	0.080	MT	9429	protein altering variant	-/CCC	ins			1
rs1569484301	ND4 ; COX3 ; ND3 ; ATP6 ; ND4L	1.000	0.080	MT	9441	inframe insertion	-/TTT	delins			1
rs771792843	GATA4	1.000	0.080	8	11749060	missense variant	C/T	snv	4.0E-06		1
rs774966208	NOTCH1	1.000	0.080	9	136523014	missense variant	C/G;T	snv			1
rs104893902	NKX2-5	0.925	0.080	5	173232888	missense variant	G/A	snv		7.0E-06	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1185861796	GATA4	1.000	0.080	8	11758339	missense variant	C/A	snv	8.0E-06	7.0E-06	2
rs769531968	JAG1	0.925	0.120	20	10643807	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs368858287	GATA6	1.000	0.080	18	22200684	missense variant	G/C;T	snv		1.4E-05	1
rs387906769	GATA4	0.807	0.080	8	11708799	missense variant	C/T	snv	7.3E-05	4.2E-05	7
rs864622513	GDF1 ; CERS1	1.000	0.080	19	18868791	missense variant	A/G	snv	1.1E-03	1.1E-04	1