DisGeNET - a database of gene-disease associations

List of associated variants

Atrial septal defect 2, C1842778

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
rs104894073	GATA4	0.827	0.080	8	11750213	missense variant	G/A;C;T	snv			8
rs56208331	GATA4	0.925	0.080	8	11758419	missense variant	G/A;T	snv	2.0E-03		4
rs387906772	GATA4	1.000	0.080	8	11755064	missense variant	A/G;T	snv			3
rs104894074	GATA4	0.925	0.120	8	11708467	missense variant	C/T	snv			2
rs1282433424	GATA4	0.925	0.080	8	11755094	missense variant	C/T	snv			2
rs387906771	GATA4	1.000	0.080	8	11750166	missense variant	C/G;T	snv			2
rs56191129	GATA4	1.000	0.080	8	11708590	missense variant	G/A;C	snv	3.1E-05		1
rs56298569	GATA4	1.000	0.080	8	11755082	stop gained	C/G;T	snv			1
rs777778466	GATA4	1.000	0.080	8	11758353	missense variant	C/A;T	snv	2.4E-05		1