DisGeNET - a database of gene-disease associations

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, C3151443

Variant: rs770066110 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs770066110

rs770066110

TERT

A

0.700

CausalMutation

CLINVAR

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

2018