rs2736100
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1286401 |
| Gene | TERT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2736100 |
| dbSNP (classic) | rs2736100 |
| ClinGen | rs2736100 |
| ebi | rs2736100 |
| HLI | rs2736100 |
| Exac | rs2736100 |
| Gnomad | rs2736100 |
| Varsome | rs2736100 |
| LitVar | rs2736100 |
| Map | rs2736100 |
| PheGenI | rs2736100 |
| Biobank | rs2736100 |
| 1000 genomes | rs2736100 |
| hgdp | rs2736100 |
| ensembl | rs2736100 |
| geneview | rs2736100 |
| scholar | rs2736100 |
| rs2736100 | |
| pharmgkb | rs2736100 |
| gwascentral | rs2736100 |
| openSNP | rs2736100 |
| 23andMe | rs2736100 |
| SNPshot | rs2736100 |
| SNPdbe | rs2736100 |
| MSV3d | rs2736100 |
| GWAS Ctlg | rs2736100 |
| GMAF | 0.4477 |
| Max Magnitude | 2 |
| ? | (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 19578367 ]
|
| 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 19836008]
|
| 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 20056643] 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 20543847]
|
| 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 20700438] The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia
[PMID 20847058] 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 20211558] 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 21731055] Worldwide genetic structure in 37 genes important in telomere biology
| GWAS snp | |
|---|---|
| PMID | [PMID 21531791]
|
| Trait | |
| 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] |
| Trait | |
| 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 22221621] The TERT rs2736100 Polymorphism and Cancer Risk: A Meta-analysis Based on 25 Case-Control Studies
| GWAS snp | |
|---|---|
| PMID | [PMID 21827660]
|
| Trait | |
| 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 22662130] Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4 - the AdAPT Method
[PMID 18978790] 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 19578366] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
[PMID 19654303] 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 20548021] Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
[PMID 20628624] Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
[PMID 21081471] 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 22267287] 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 22523397] 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.
| GWAS snp | |
|---|---|
| PMID | [PMID 23143601]
|
| 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 23370545] Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls
| GWAS snp | |
|---|---|
| PMID | [PMID 22886559]
|
| 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 23115063] 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 23583980]
|
| 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 23161787] 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 24283584] TERT Genetic Polymorphism rs2736100 Was Associated with Lung Cancer: A Meta-Analysis Based on 14,492 Subjects
[PMID 24434656] Association between MUC5 B and TERT polymorphisms and different interstitial lung disease phenotypes
[PMID 24465664] The GG Genotype of Telomerase Reverse Transcriptase at Genetic Locus rs2736100 Is Associated with Human Atherosclerosis Risk in the Han Chinese Population
[PMID 24476768] 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 22878375] 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 23433592] Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer--a case-control study in a Chinese population.
[PMID 23454887] Role of selected genetic variants in lung cancer risk in African Americans.
[PMID 23535824] Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.
[PMID 23733245] Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.
[PMID 24904205] 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 24465473]
|
| 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 25314060] TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations
[PMID 25381796] Telomere Length and the Risk of Atrial Fibrillation: Insights into the Role of Biological versus Chronological Aging
| GWAS snp | |
|---|---|
| PMID | [PMID 24908248]
|
| 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 25785013] 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 26143636] 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.
[PMID 28233563] Genetic predisposition to advanced biological ageing increases risk for childhood-onset recurrent major depressive disorder in a large UK sample.
[PMID 28300824] Association Between the Telomerase rs2736098_TT Genotype and a Lower Risk of Chronic Hepatitis B and Cirrhosis in Chinese Males.
[PMID 28416747] The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma.
[PMID 30012914] Genotyping of single nucleotide polymorphisms using the SNP-RFLP method.
[PMID 30325019] Genetic determinants of telomere length and risk of pancreatic cancer: a PANDoRA study.
[PMID 30738744] The TERT locus genotypes of rs2736100-CC/CA and rs2736098-AA predict shorter survival in renal cell carcinoma.
[PMID 33076992] Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study.
