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
rs1009388	POMC	1.000	0.040	2	25168232	intron variant	G/C	snv		0.18	1
rs3754860	POMC	1.000	0.040	2	25170385	upstream gene variant	C/T	snv		0.22	1