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	AF GENOME	Num. diseases
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34