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	Num. diseases
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv	44
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins	43
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv	34