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
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv		0.36	27
rs4659174	HSD3B2	1.000		1	119413721	upstream gene variant	G/A;T	snv			1