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	Num. diseases
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins		43
rs1014959895	PRMT7	0.763	0.360	16	68329105	stop gained	G/C;T	snv	4.0E-06; 1.6E-05	16
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06	15