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
rs11693806	DIRC3	0.925	0.120	2	217427435	non coding transcript exon variant	C/A;G	snv		0.65	2
rs16857609	DIRC3	0.925	0.080	2	217431785	intron variant	C/T	snv		0.28	1