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
rs121918609	STIL	0.925	0.120	1	47251285	stop gained	G/A;C	snv	2
rs199422206	STIL	0.925	0.120	1	47262902	splice donor variant	C/T	snv	2
rs199422207	STIL	0.925	0.120	1	47251345	frameshift variant	C/-	del	2