DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		6
rs80359541	BRCA2	0.882	0.200	13	32340183	frameshift variant	C/-	del	8.0E-06		6