DisGeNET - a database of gene-disease associations

List of shared variants

Ostium secundum atrial septal defect, C0344724

Disease: ATRIAL SEPTAL DEFECT 1

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
rs870142	STX18-AS1	0.851	0.120	4	4646320	intron variant	C/G;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