{{Rsnum
|rsid=2736100
|Gene=TERT
|Chromosome=5
|position=1286401
|Orientation=minus
|GMAF=0.4477
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=TERT
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 26.5 | 52.2 | 21.2
| HCB | 12.6 | 62.2 | 25.2
| JPT | 16.1 | 44.6 | 39.3
| YRI | 15.2 | 53.8 | 31.0
| ASW | 21.1 | 52.6 | 26.3
| CHB | 12.6 | 62.2 | 25.2
| CHD | 20.2 | 40.4 | 39.4
| GIH | 40.4 | 50.5 | 9.1
| LWK | 17.3 | 50.0 | 32.7
| MEX | 17.2 | 51.7 | 31.0
| MKK | 32.7 | 53.6 | 13.7
| TSI | 33.3 | 43.1 | 23.5
| HapMapRevision=28
}}[http://blog.23andme.com/2009/07/06/snpwatch-genetic-variants-near-tumor-suppressor-genes-may-increase-risk-for-brain-and-skin-cancer/ 23andMe blog] [[rs2736100]] C 1.27 [[Glioma]] 
{{PMID Auto GWAS
|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
|RiskAllele=A
|Pval=2.9999999999999997E-8
|OR=2.11
|ORtxt=[1.61-2.78]
}}

{{omim
|desc=LUNG CANCER SUSCEPTIBILITY 3; LNCR3
|id=612571
|rsnum=2736100
}}
{{PMID Auto GWAS
|PMID=19578367
|Trait=Glioma
|Title=Genome-wide association study identifies five susceptibility loci for glioma
|RiskAllele=G
|Pval=2E-17
|OR=1.27
|ORtxt=[1.19-1.37]
}}

{{PMID Auto GWAS
|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
|RiskAllele=G
|Pval=2E-10
|OR=1.12
|ORtxt=[1.08-1.16]
|OA=1
}}

{{PharmGKB
|RSID=rs2736100
|Name_s=
|Gene_s=TERT
|Feature=
|Evidence=PubMed ID:18835860; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. (Initial Sample Size: 159 Japanese cases, 934 Japanese controls; Replication Sample Size: 83 Japanese cases, 535 Japanese controls); (Region: 5p15.33; Reported Gene: TERT; Risk Allele: rs2736100-A) This variant is associated with Idiopathic pulmonary fibrosis.
|Drugs=
|Drug Classes=
|Diseases=Pulmonary Fibrosis
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740887
}}
{{PMID Auto
|PMID=20056643
|Title=A rigorous and comprehensive validation: common genetic variations and lung cancer
|OA=1
}}

{{PMID Auto GWAS
|PMID=20139978
|Trait=Hematological and biochemical traits
|Title=Genome-wide association study of hematological and biochemical traits in a Japanese population
|RiskAllele=G
|Pval=3E-8
|OR=0.21
|ORtxt=[NR] % variance
}}
{{PMID Auto
|PMID=20462933
|Title=Interaction between 5 genetic variants and allergy in glioma risk
}}
{{PMID Auto GWAS
|PMID=20543847
|Trait=Testicular germ cell cancer
|Title=Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
|RiskAllele=T
|Pval=8E-15
|OR=1.33
|ORtxt=[1.18-1.50]
|OA=1
}}
{{PMID Auto
|PMID=20700438
|Title=The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia
|OA=1
}}
{{PMID Auto
|PMID=20847058
|Title=Genetic risk profiles identify different molecular etiologies for glioma
|OA=1
}}
{{PMID Auto
|PMID=20871597
|Title=Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations
}}
{{PMID Auto
|PMID=20211558
|Title=Genetic advances in glioma: susceptibility genes and networks
|OA=1
}}

{{PharmGKB
|RSID=rs2736100
|Name_s=
|Gene_s=TERT
|Feature=
|Evidence=PubMed ID:18835860; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. (Initial Sample Size: 159 Japanese cases, 934 Japanese controls; Replication Sample Size: 83 Japanese cases, 535 Japanese controls); (Region: 5p15.33; Reported Gene(s): TERT; Risk Allele: rs2736100-A); (p-value= 2.99999999999999E-08).This variant is associated with Idiopathic pulmonary fibrosis.
|Drugs=
|Drug Classes=
|Diseases=Pulmonary Fibrosis
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740847
}}

{{omim
|id=273300
|rsnum=2736100
}}

{{omim
|id=613033
|rsnum=2736100
}}

{{PMID Auto
|PMID=21350045
|Title=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 Auto
|PMID=21731055
|Title=Worldwide genetic structure in 37 genes important in telomere biology
|OA=1
}}

{{PMID Auto GWAS
|PMID=21531791
|Trait=None
|Title=Chromosome 7p11.2 (EGFR) variation influences glioma risk.
|RiskAllele=
|Pval=1E-14
|OR=1.2500
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21725308
|Trait=None
|Title=A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
|RiskAllele=C
|Pval=1E-27
|OR=1.2700
|ORtxt=[1.22-1.33]
}}

{{PMID Auto
|PMID=22041560
|Title=[The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma]
}}

{{PMID Auto
|PMID=22221621
|Title=The TERT rs2736100 Polymorphism and Cancer Risk: A Meta-analysis Based on 25 Case-Control Studies
|OA=1
}}

{{PMID Auto GWAS
|PMID=21827660
|Trait=None
|Title=Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.
|RiskAllele=
|Pval=7E-9
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=22404340
|Title=Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population
}}

{{PMID Auto
|PMID=22495810
|Title=Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk
}}

{{PMID Auto
|PMID=22662130
|Title=Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4 - the AdAPT Method
|OA=1
}}

{{PMID|18978790|OA=1
}} 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|OA=1
}} Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

{{PMID|19654303|OA=1
}} 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|OA=1
}} Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.

{{PMID|20628624|OA=1
}} 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|OA=1
}} 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|OA=1
}} 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|OA=1
}} 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
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2736100
|overall_frequency_n=64
|overall_frequency_d=128
|overall_frequency=0.5
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=53
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Testicular Cancer]]

{{PMID Auto GWAS
  |PMID=23143601
  |Trait=Lung cancer
  |Title=Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
  |RiskAllele=G
  |Pval=4E-27
  |OR=1.38
  |ORtxt=[1.30-1.47]
  }}

{{PMID Auto
|PMID=23370545
|Title=Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls
|OA=1
}}

{{PMID Auto GWAS
  |PMID=22886559
  |Trait=Glioma
  |Title=Genome-wide association study of glioma and meta-analysis.
  |RiskAllele=G
  |Pval=4E-9
  |OR=1.30
  |ORtxt=[1.19-1.41]
  |OA=1
}}

{{PMID Auto
|PMID=23115063
|Title=Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23583980
  |Trait=Interstitial lung disease
  |Title=Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
  |RiskAllele=A
  |Pval=2E-19
  |OR=1.37
  |ORtxt=[1.27-1.49]
  |OA=1
}}

{{PMID Auto
|PMID=23161787
|Title=Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies
|OA=1
}}

{{PMID Auto
|PMID=24269974
|Title=Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility
}}

{{PMID Auto
|PMID=24283584
|Title=TERT Genetic Polymorphism rs2736100 Was Associated with Lung Cancer: A Meta-Analysis Based on 14,492 Subjects
}}

{{PMID Auto
|PMID=24434656
|Title=Association between MUC5 B and TERT polymorphisms and different interstitial lung disease phenotypes
}}

{{PMID Auto
|PMID=24465664
|Title=The GG Genotype of Telomerase Reverse Transcriptase at Genetic Locus rs2736100 Is Associated with Human Atherosclerosis Risk in the Han Chinese Population
|OA=1
}}

{{PMID Auto
|PMID=24476768
|Title=The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms
}}

{{PMID Auto
|PMID=24590268
|Title=Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis
}}

{{PMID Auto
|PMID=22711262
|Title=Systematic evaluation of bladder cancer risk-associated single-nucleotide polymorphisms in a Chinese population.
}}

{{PMID Auto
|PMID=22878375
|Title=The TERT variant rs2736100 is associated with colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=23368278
|Title=Significant association of 5p15.33 (TERT-CLPTM1L genes) with lung cancer in Chinese Han population.
}}

{{PMID Auto
|PMID=23433592
|Title=Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer--a case-control study in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=23454887
|Title=Role of selected genetic variants in lung cancer risk in African Americans.
|OA=1
}}

{{PMID Auto
|PMID=23535824
|Title=Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.
|OA=1
}}

{{PMID Auto
|PMID=23733245
|Title=Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.
}}

{{PMID Auto
|PMID=24904205
|Title=Association between previously identified loci affecting telomere length and coronary heart disease (CHD) in Han Chinese population
}}

{{PMID Auto
|PMID=25037574
|Title=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 Auto
|PMID=24615522
|Title=Quantitative assessment of common genetic variants on chromosome 5p15 and lung cancer risk
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}