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From SNPedia

Geno Mag Summary
(G;G) 1.6 1.6x higher risk for glioma development
(G;T) 1.3 1.3x higher risk for glioma development, 2.1x risk of pulmonary fibrosis
(T;T) 2 higher risk of Interstitial lung disease, and testicular cancer, 2.1x risk of pulmonary fibrosis
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs2736100
23andMe allrs2736100
SNP Nexus

GWAS Ctlgrs2736100
Max Magnitude2
? (G;G) (G;T) (T;T) 28
23andMe blog rs2736100 C 1.27 Glioma
GWAS snp
PMID [PMID 18835860]
Trait Idiopathic pulmonary fibrosis
Title A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
Risk Allele A
P-val 2.9999999999999997E-8
Odds Ratio 2.11 [1.61-2.78]
GWAS snp
PMID [PMID 19578367OA-icon.png]
Trait Glioma
Title Genome-wide association study identifies five susceptibility loci for glioma
Risk Allele G
P-val 2E-17
Odds Ratio 1.27 [1.19-1.37]
GWAS snp
PMID [PMID 19836008OA-icon.png]
Trait Lung adenocarcinoma
Title A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma
Risk Allele G
P-val 2E-10
Odds Ratio 1.12 [1.08-1.16]

[PMID 20056643OA-icon.png] A rigorous and comprehensive validation: common genetic variations and lung cancer

GWAS snp
PMID [PMID 20139978]
Trait Hematological and biochemical traits
Title Genome-wide association study of hematological and biochemical traits in a Japanese population
Risk Allele G
P-val 3E-8
Odds Ratio 0.21 [NR] % variance

[PMID 20462933] Interaction between 5 genetic variants and allergy in glioma risk

GWAS snp
PMID [PMID 20543847OA-icon.png]
Trait Testicular germ cell cancer
Title Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
Risk Allele T
P-val 8E-15
Odds Ratio 1.33 [1.18-1.50]

[PMID 20700438OA-icon.png] The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia

[PMID 20847058OA-icon.png] Genetic risk profiles identify different molecular etiologies for glioma

[PMID 20871597] Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations

[PMID 20211558OA-icon.png] Genetic advances in glioma: susceptibility genes and networks


[PMID 21350045] Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population

[PMID 21731055OA-icon.png] Worldwide genetic structure in 37 genes important in telomere biology

GWAS snp
PMID [PMID 21531791OA-icon.png]
Title Chromosome 7p11.2 (EGFR) variation influences glioma risk.
Risk Allele
P-val 1E-14
Odds Ratio 1.2500 [NR]
GWAS snp
PMID [PMID 21725308]
Title A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
Risk Allele C
P-val 1E-27
Odds Ratio 1.2700 [1.22-1.33]

[PMID 22041560] [The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma]

[PMID 22221621OA-icon.png] The TERT rs2736100 Polymorphism and Cancer Risk: A Meta-analysis Based on 25 Case-Control Studies

GWAS snp
PMID [PMID 21827660OA-icon.png]
Title Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.
Risk Allele
P-val 7E-9
Odds Ratio None None

[PMID 22404340] Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population

[PMID 22495810] Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk

[PMID 22662130OA-icon.png] Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4 - the AdAPT Method

[PMID 18978790OA-icon.png] Lung cancer susceptibility locus at 5p15.33.

[PMID 19369581] Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population.

[PMID 19578366OA-icon.png] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

[PMID 19654303OA-icon.png] Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

[PMID 19955392] Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers.

[PMID 20061363] Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes.

[PMID 20212223] New insights into susceptibility to glioma.

[PMID 20548021OA-icon.png] Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.

[PMID 20628624OA-icon.png] Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".

[PMID 21081471OA-icon.png] Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.

[PMID 21825990] Genetic causes of glioma: new leads in the labyrinth.

[PMID 22228261] Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population.

[PMID 22267287OA-icon.png] Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk.

[PMID 22370939] Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma.

[PMID 22523397OA-icon.png] Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.

[PMID 22539396] hTERT cancer risk genotypes are associated with telomere length.

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.5

Testicular Cancer

GWAS snp
PMID [PMID 23143601OA-icon.png]
Trait Lung cancer
Title Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
Risk Allele G
P-val 4E-27
Odds Ratio 1.38 [1.30-1.47]

[PMID 23370545OA-icon.png] Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls

GWAS snp
PMID [PMID 22886559OA-icon.png]
Trait Glioma
Title Genome-wide association study of glioma and meta-analysis.
Risk Allele G
P-val 4E-9
Odds Ratio 1.30 [1.19-1.41]

[PMID 23115063OA-icon.png] Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study

GWAS snp
PMID [PMID 23583980OA-icon.png]
Trait Interstitial lung disease
Title Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
Risk Allele A
P-val 2E-19
Odds Ratio 1.37 [1.27-1.49]

[PMID 23161787OA-icon.png] Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies

[PMID 24269974] Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility

[PMID 24283584OA-icon.png] TERT Genetic Polymorphism rs2736100 Was Associated with Lung Cancer: A Meta-Analysis Based on 14,492 Subjects

[PMID 24434656OA-icon.png] Association between MUC5 B and TERT polymorphisms and different interstitial lung disease phenotypes

[PMID 24465664OA-icon.png] The GG Genotype of Telomerase Reverse Transcriptase at Genetic Locus rs2736100 Is Associated with Human Atherosclerosis Risk in the Han Chinese Population

[PMID 24476768OA-icon.png] The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

[PMID 24590268] Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis

[PMID 22711262] Systematic evaluation of bladder cancer risk-associated single-nucleotide polymorphisms in a Chinese population.

[PMID 22878375OA-icon.png] The TERT variant rs2736100 is associated with colorectal cancer risk.

[PMID 23368278] Significant association of 5p15.33 (TERT-CLPTM1L genes) with lung cancer in Chinese Han population.

[PMID 23433592OA-icon.png] Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer--a case-control study in a Chinese population.

[PMID 23454887OA-icon.png] Role of selected genetic variants in lung cancer risk in African Americans.

[PMID 23535824OA-icon.png] Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.

[PMID 23733245OA-icon.png] Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.

[PMID 24904205OA-icon.png] Association between previously identified loci affecting telomere length and coronary heart disease (CHD) in Han Chinese population

[PMID 25037574] Genetic polymorphisms of TERT and CLPTM1L, cooking oil fume exposure, and risk of lung cancer: a case-control study in a Chinese non-smoking female population

[PMID 24615522] Quantitative assessment of common genetic variants on chromosome 5p15 and lung cancer risk

GWAS snp
PMID [PMID 24465473OA-icon.png]
Trait Telomere length
Title A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.
Risk Allele C
P-val 4E-6
Odds Ratio .08 [NR] unit increase

[PMID 25314060OA-icon.png] TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations

[PMID 25381796OA-icon.png] Telomere Length and the Risk of Atrial Fibrillation: Insights into the Role of Biological versus Chronological Aging

GWAS snp
PMID [PMID 24908248OA-icon.png]
Trait Glioma (high-grade)
Title Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
Risk Allele C
P-val 1E-15
Odds Ratio 1.39 [1.28-1.50]

[PMID 25738283] Association of genetic polymorphisms in the telomerase reverse transcriptase gene with prostate cancer aggressiveness

[PMID 25785013OA-icon.png] Telomerase reverse transcriptase (TERT) rs2736100 polymorphism contributes to increased risk of glioma: evidence from a meta-analysis

[PMID 26025910] Telomere length, genetic variants and gastric cancer risk in a Chinese population

[PMID 26143636OA-icon.png] TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma

[PMID 26243184] An Updated and Comprehensive Meta-Analysis of Association Between Seven Hot Loci Polymorphisms from Eight GWAS and Glioma Risk

[PMID 26294352] Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology

[PMID 26406970] hTERT genetic variation in depression

[PMID 26014354] CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility

[PMID 26487696] Co-occurrence of myeloproliferative neoplasms and solid tumors is attributed to a synergism between cytoreductive therapy and the common TERT polymorphism rs2736100

[PMID 26554909] Genetic Polymorphism, Telomere Biology and Non-Small Lung Cancer Risk

[PMID 26590902] Fine-mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci

[PMID 26716642] The identification of two regulatory ESCC susceptibility genetic variants in the TERT-CLPTM1L loci.

[PMID 26934125] The association between the TERT rs2736100 AC genotype and reduced risk of upper tract urothelial carcinomas in a Han Chinese population.

[PMID 27162544] Combining Telomerase Reverse Transcriptase Genetic Variant rs2736100 with Epidemiologic Factors in the Prediction of Lung Cancer Susceptibility.

[PMID 27154632] Case-Control Study on Impact of the Telomerase Reverse Transcriptase Gene Polymorphism and Additional Single Nucleotide Polymorphism (SNP)- SNP Interaction on Non-Small Cell Lung Cancers Risk in Chinese Han Population.

[PMID 27185198] Functional evaluation of TERT-CLPTM1L genetic variants associated with susceptibility of papillary thyroid carcinoma.