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
rs869312741	SMG9	0.882	0.080	19	43747509	frameshift variant	GG/-	delins			5
rs869312742	SMG9	0.882	0.080	19	43744768	splice region variant	T/C	snv			5