DisGeNET - a database of gene-disease associations

List of associated variants

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, C3151444

Source: ALL

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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
rs199422301	TERT	0.882	0.120	5	1271156	missense variant	G/A	snv		7.0E-06	3
rs199422297	TERT	0.925	0.120	5	1279311	missense variant	G/A	snv	5.1E-06	4.2E-05	2