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 GENOME	Num. diseases
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del	2.1E-05	27
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins		19
rs1555706928	SETBP1	0.851	0.240	18	44951954	missense variant	G/A	snv		8