Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918665
rs121918665
TERT
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011
dbSNP: rs121918665
rs121918665
TERT
0.800 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610

2005
dbSNP: rs121918665
rs121918665
TERT
0.800 GeneticVariation UNIPROT Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 16247010

2005
dbSNP: rs121918665
rs121918665
TERT
G 0.800 CausalMutation CLINVAR

dbSNP: rs770066110
rs770066110
TERT
A 0.700 CausalMutation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670

2018
dbSNP: rs776981958
rs776981958
TERT
C 0.700 GeneticVariation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670

2018
dbSNP: rs1060502990
rs1060502990
TERT
CG 0.700 CausalMutation CLINVAR

dbSNP: rs1176273130
rs1176273130
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs1554038257
rs1554038257
TERT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554042899
rs1554042899
TERT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554043139
rs1554043139
TERT
T 0.700 CausalMutation CLINVAR

dbSNP: rs199422294
rs199422294
TERT
T 0.700 CausalMutation CLINVAR

dbSNP: rs199422299
rs199422299
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs199422301
rs199422301
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs199422305
rs199422305
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs34094720
rs34094720
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs765566930
rs765566930
TERT
T 0.700 GeneticVariation CLINVAR

dbSNP: rs797046042
rs797046042
TERT
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878855300
rs878855300
TERT
A 0.700 CausalMutation CLINVAR