Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE Thirty percent of HCCs harbored TERT promoter mutations and there was a significant difference in rs2736098 and rs2736100 genotypes between wt and mutant TERT promoter-bearing HCC tumors (P = 0.007 and 0.018, respectively). 28416747

2017

dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE Our research seems to provide strong evidence for an association between CLPTM1L rs402710C/T and TERT rs2736100A/C SNPs and the risk of OSSC, and suggests that higher tumor RTL values and positive hTERT expression may be applicable as early prognostic markers.(J Oral Sci 58, 449-458, 2016). 28025427

2016

dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE Meanwhile, rs2736100 was significantly associated with TERT mRNA expression in both normal and tumor lung tissues. 26149460

2015

dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE Adjusting for tumor grade showed a significant association between rs2736100 and IDH status (P = .01), 10q loss (P = .02); rs4295627 and 1p-19q codeletion (P = .04), rs498872 and IDH (P = .02), 9p loss (P = .04), and 10q loss (P = .02). 23161787

2013

dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE For lung cancer, which was the most studied tumor type, the estimated joint population attributable risk for three polymorphisms (TERT rs2736100, intergenic rs4635969, and CLPTM1L rs402710) was 41%. 22523397

2012

dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE The direction and magnitude of the signal were consistent for samples from cohort and case-control studies, but the strength of the association was more pronounced for loci rs6010620 (20q,13.33; RTEL) and rs2736100 (5p15.33, TERT) in cohort studies despite the smaller number of cases in this group, likely due to relatively more higher grade tumors being captured in the cohort studies. 22886559

2012

dbSNP: rs2736100
rs2736100
0.070 GeneticVariation BEFREE In both cohorts, the frequencies of rs2736100 and rs6010620 risk genotypes were highly correlated with high-grade disease (P < 0.001), whereas rs4295627 and rs498872 risk genotypes were inversely related to tumor grade (P < 0.001). 20847058

2010

dbSNP: rs2853669
rs2853669
0.030 GeneticVariation BEFREE The TERT core promoter region containing the previously described mutations and a common functional polymorphism (rs2853669) was sequenced in tumors and blood samples from 192 GBM patients. 25140036

2015

dbSNP: rs2853669
rs2853669
0.030 GeneticVariation BEFREE TERT rs2853669 polymorphism was found in 44.4% of tumors. 25448848

2015

dbSNP: rs2853669
rs2853669
0.030 GeneticVariation BEFREE Interleukin-6 (IL-6) expression regulated by TERT promoter status and polymorphism, what leads us to think that TERT and IL-6 plays a significant role in GBM, where specific SNPs increase the risk of developing GBM while the rs2853669 SNP and specific mutations in the TERT promoter of the tumor lead to shorter survival. 26143636

2015

dbSNP: rs2736098
rs2736098
0.020 GeneticVariation BEFREE The population with the TERT rs2736098 locus carrying the mutant genotype (CT+TT) was associated with the number of tumors (OR=0.553, 95% CI=0.236-0.928). 28789383

2017

dbSNP: rs2736098
rs2736098
0.020 GeneticVariation BEFREE Thirty percent of HCCs harbored TERT promoter mutations and there was a significant difference in rs2736098 and rs2736100 genotypes between wt and mutant TERT promoter-bearing HCC tumors (P = 0.007 and 0.018, respectively). 28416747

2017

dbSNP: rs10069690
rs10069690
0.010 GeneticVariation BEFREE After stratification according to age, T stage, tumor size and tumor node metastasis (TNM) stage, the distribution frequencies of CC genotype and CT + TT genotype of rs10069690C/T showed significant difference (P < 0.05). 27472887

2016

dbSNP: rs2075786
rs2075786
0.010 GeneticVariation BEFREE In conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age. 22948024

2013

dbSNP: rs2735940
rs2735940
0.010 GeneticVariation BEFREE Most notable were associations with TERT rs2736118 (ORadj 6.18, 95% CI 2.90, 13.19) with estrogen receptor negative/progesterone receptor positive (ER-/PR+) tumors and TERT rs2735940 (ORadj 0.73, 95% CI 0.59, 0.91) with ER-/PR- tumors. 23629941

2013

dbSNP: rs2736118
rs2736118
0.010 GeneticVariation BEFREE Most notable were associations with TERT rs2736118 (ORadj 6.18, 95% CI 2.90, 13.19) with estrogen receptor negative/progesterone receptor positive (ER-/PR+) tumors and TERT rs2735940 (ORadj 0.73, 95% CI 0.59, 0.91) with ER-/PR- tumors. 23629941

2013