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
rs370475970	GFER ; NOXO1			16	1985996	missense variant	C/T	snv	3.2E-05	7.7E-05	1
rs863224028	NOXO1 ; GFER			16	1984415	frameshift variant	C/-	delins			1