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
rs1744297	ASPG	14	104102135	intron variant	T/C	snv	0.86	12
rs12613336		2	210704675	regulatory region variant	T/C	snv	0.19	6
rs13244654	SUMF2	7	56079263	intron variant	T/C	snv	0.48	4