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	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs35188965	SLC12A7	5	1104823	intron variant	C/G;T	snv		12
rs218265		4	54542832	intergenic variant	T/C	snv	0.21	10
rs2979489	RBPMS	8	30423317	intron variant	G/A;C	snv		6