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
rs9264942	LOC112267902 ; HLA-B	0.763	0.400	6	31306603	intron variant	T/C	snv		0.34	15
rs2395029	HCP5	0.790	0.320	6	31464003	non coding transcript exon variant	T/G	snv	2.7E-02	2.4E-02	12