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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs4430796	HNF1B	0.790	0.280	17	37738049	intron variant	A/G	snv		0.52	14
rs12970291		0.763	0.120	18	75305279	intergenic variant	G/A	snv		2.8E-02	12