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
rs1347223331	TRAPPC6B	1.000		14	39158404	splice acceptor variant	T/C	snv	4.6E-06		1
rs377626365	TRAPPC6B	1.000		14	39159508	stop gained	G/A	snv	8.1E-06	2.8E-05	1