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
rs2144300	GALNT2	0.882	0.040	1	230159169	intron variant	C/T	snv		0.44	7
rs9989419		0.882	0.120	16	56951227	regulatory region variant	A/G	snv		0.55	11