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
rs2208532	SRD5A2	0.882	0.080	2	31563919	intron variant	G/A	snv		0.59	3
rs56350726	SLC28A3 ; LOC105376116	0.882	0.080	9	84285454	missense variant	T/A;C	snv	7.2E-02; 1.2E-05		3
rs676033	SRD5A2	0.882	0.080	2	31583901	upstream gene variant	T/C	snv		0.69	3