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
rs774843232	PGAP2	0.851	0.080	11	3825024	missense variant	G/A;C;T	snv	8.0E-06; 3.6E-05; 1.2E-05		9
rs1057518934	HERC2	0.851	0.240	15	28211095	frameshift variant	G/-	delins			8