DisGeNET - a database of gene-disease associations

List of associated variants

Ostium secundum atrial septal defect, C0344724

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
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs870142	STX18-AS1	0.851	0.120	4	4646320	intron variant	C/G;T	snv			7
rs1057518422	TAB2	0.851	0.240	6	149378954	stop gained	C/T	snv			7
rs16835979	STX18-AS1	0.851	0.120	4	4633549	intron variant	C/A	snv		0.20	6
rs6824295	STX18-AS1	0.851	0.120	4	4612553	intron variant	C/T	snv		0.20	6
rs3729856	GATA4	0.925	0.080	8	11757066	missense variant	A/G	snv	9.5E-02	9.0E-02	3
rs1555223259	TBX5	1.000	0.080	12	114355868	stop gained	G/C	snv			3
rs1282433424	GATA4	0.925	0.080	8	11755094	missense variant	C/T	snv			2