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
rs1555174708	CCDC65	0.925		12	48916993	frameshift variant	A/-	del			4
rs863223325	CCDC65	0.925	0.160	12	48918751	frameshift variant	AT/-	delins			3