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rs2736100

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome5
Position1286401
GeneTERT
is asnp
is mentioned by
dbSNPrs2736100
ebirs2736100
HLIrs2736100
Exacrs2736100
Varsomers2736100
Maprs2736100
PheGenIrs2736100
hapmaprs2736100
1000 genomesrs2736100
hgdprs2736100
ensemblrs2736100
gopubmedrs2736100
geneviewrs2736100
scholarrs2736100
googlers2736100
pharmgkbrs2736100
gwascentralrs2736100
openSNPrs2736100
23andMers2736100
23andMe allrs2736100
SNP Nexus

SNPshotrs2736100
SNPdbers2736100
MSV3drs2736100
GWAS Ctlgrs2736100
GMAF0.4477
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]
OMIM612571
DescLUNG CANCER SUSCEPTIBILITY 3; LNCR3
Variant
Relatedalso
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


OMIM273300
Desc
Variant
Relatedalso
OMIM613033
Desc
Variant
Relatedalso


[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]
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 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]
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 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
rs2736100
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.5
summary



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.