DisGeNET - a database of gene-disease associations

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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	Num. diseases
rs199422202	CENPJ	0.851	0.120	13	24913008	frameshift variant	G/-	delins		5
rs121434311	CENPJ ; RNF17	0.882	0.120	13	24884083	missense variant	T/A	snv	4.0E-06	3
rs199422203	CENPJ	0.925	0.120	13	24889371	frameshift variant	ACTG/-	delins	8.0E-06	2