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
rs200092283	TP53BP1 ; TUBGCP4	0.925	0.160	15	43403697	synonymous variant	G/T	snv	3.0E-04	3.3E-04	2
rs794726855	TUBGCP4	1.000		15	43383359	frameshift variant	-/T	delins			1
rs794726856	TUBGCP4	1.000		15	43376592	frameshift variant	T/-	delins			1