DisGeNET - a database of gene-disease associations

List of shared variants

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, C3554656

Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4

Source: ALL

Results per page

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
rs373740199	RTEL1 ; RTEL1-TNFRSF6B	0.851	0.120	20	63693247	stop gained	C/A;T	snv	8.0E-06; 7.2E-05		4
rs398123052	RTEL1-TNFRSF6B ; RTEL1	0.925		20	63689115	missense variant	G/A;T	snv	8.1E-06; 4.0E-06		2