DisGeNET - a database of gene-disease associations

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
rs80359200	BRCA2	0.752	0.320	13	32394726	stop gained	C/A;G	snv	8.0E-06		12
rs80359604	BRCA2	0.763	0.320	13	32329468	frameshift variant	GT/-	delins			10