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
rs114800139	HLA-DRB9	1.000	0.120	6	32460938	intron variant	G/A	snv			1
rs310236	JAK1	1.000	0.120	1	64868174	non coding transcript exon variant	G/C	snv		0.39	1