DisGeNET - a database of gene-disease associations

List of shared variants

Congenital Heart Defects, C0018798

Disease: Global developmental delay

Source: ALL

Results per page

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
rs398123001	PUF60	0.925		8	143818378	missense variant	G/A	snv			4
rs145536528	SLU7	1.000		5	160413521	missense variant	G/A	snv	1.6E-05	3.5E-05	3