Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554043124
rs1554043124
A 0.700 GeneticVariation CLINVAR Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease. 28677271

2017

dbSNP: rs2736098
rs2736098
0.040 GeneticVariation BEFREE Here we analyzed the TERT promoter status and genotyped the TERT SNPs at rs2736098 and rs2736100 in patients with HCC. 28416747

2017

dbSNP: rs2736098
rs2736098
0.040 GeneticVariation BEFREE Both the rs2736098 T allele of TERT and the rs401681 T allele of CLPTM1L were associated with a significantly increased risk of HCC (adjusted odds ratio [OR]=1.605, 95% confidence interval [CI]=1.164-2.213; adjusted OR=1.399, 95%CI=1.002-1.955, respectively). 25339005

2014

dbSNP: rs2736098
rs2736098
0.040 GeneticVariation BEFREE Additionally, the association was more significant in Asians (OR=1.20; 95% CI=1.07-1.34), while in subsequent analyses stratified by cancer type, the variant rs2736098 was definitely associated with increased lung cancer (OR=1.18; 95% CI=1.07-1.29) and hepatocellular carcinoma risk (OR=1.38; 95% CI=1.20-1.59). 27273963

2016

dbSNP: rs2736098
rs2736098
0.040 GeneticVariation BEFREE Four hundred patients with HCC and 400 non-cancer controls were genotyped to elucidate the potential association between hTERT rs2736098 polymorphism and HCC risks. 23392802

2013

dbSNP: rs1346044973
rs1346044973
0.010 GeneticVariation BEFREE A novel TERT variant, A243V, was identified in a 65-year-old male with advanced HCC and cirrhosis secondary to chronic hepatitis C virus (HCV) and alcohol ingestion, but direct assay measurements in vitro did not detect modulation of telomerase enzymatic activity or processivity. 28813500

2017

dbSNP: rs2736100
rs2736100
0.010 GeneticVariation BEFREE Here we analyzed the TERT promoter status and genotyped the TERT SNPs at rs2736098 and rs2736100 in patients with HCC.</span> 28416747

2017

dbSNP: rs2853669
rs2853669
0.010 GeneticVariation BEFREE In conclusion, we demonstrate a substantial role for the rs2853669 in HCC with TERT promoter mutation, which suggests that the combination of the rs2853669 and the mutation indicate poor prognoses in liver cancer. 26575952

2016

dbSNP: rs1554040964
rs1554040964
G 0.700 CausalMutation CLINVAR Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease. 28677271

2017

dbSNP: rs1554040964
rs1554040964
G 0.700 CausalMutation CLINVAR Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis. 23000435

2013

dbSNP: rs1554043088
rs1554043088
TC 0.700 CausalMutation CLINVAR Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease. 28677271

2017