TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770066110
rs770066110
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3151443
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		A 0.700 CausalMutation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670 2018