DisGeNET - a database of gene-disease associations

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs2238732	PRODH	22	18927834	intron variant	C/G;T	snv		7
rs116267673		22	18902454	upstream gene variant	C/A	snv		2
rs2080346	DGCR6	22	18905062	upstream gene variant	G/A	snv	0.78	2