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
rs748597500	DGUOK	0.882		2	73950732	splice region variant	G/A	snv	4.0E-05	4.9E-05	3
rs763615602	DGUOK	0.882		2	73927047	missense variant	A/G	snv	2.5E-05	3.5E-05	3