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
rs459193	C5orf67	0.925	0.120	5	56510924	downstream gene variant	A/G	snv		0.69	1
rs9686661	C5orf67	1.000	0.080	5	56565959	intron variant	C/T	snv		0.20	1