rs2853677

This is a intron variant variant in the TERT gene.

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GWAS Catalog Trait Associations (28)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele G
OR 0.07
p 3.0e-287
N 438,351
Major Consortium StudyLarge GWAS
European
Li C et al. “Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.” American Journal of Human Genetics 106(3):389-404 (2020)
Allele G
OR 0.06
p 3.0e-31
N 78,592
Large GWAS
European

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 2.0e-45
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.05
p 4.0e-35
N 164,339
Large GWAS
European

lung adenocarcinoma

Gorman BR et al. “Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.” Nature Communications 15(1):8629 (2024)
Allele G
OR 1.21
p 3.0e-44
N 80,888
Large GWAS
European
Shiraishi K et al. “A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.” Nature Genetics 44(8):900-3 (2012)
Allele G
OR 1.41
p 3.0e-40
N 7,028
Large GWAS
East Asian
Zanetti KA et al. “Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population.” Lung Cancer (amsterdam, Netherlands) 98:33-42 (2016)
Allele G
OR 1.37
p 1.0e-8
N 4,340
Large GWAS
African American or Afro-Caribbean

myeloproliferative disorder

Bao EL et al. “Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.” Nature 586(7831):769-775 (2020)
Allele G
OR 1.46
p 3.0e-44
N 585,140
Large GWAS
European

mean corpuscular hemoglobin

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 3.0e-35
N 408,112
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 8.0e-11
N 153,950
Large GWAS
East Asian

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.04
p 2.0e-34
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 8.0e-23
N 172,433
Large GWAS
European

neutrophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-29
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 8.0e-16
N 408,112
Large GWAS
European

mean reticulocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 8.0e-29
N 408,112
Large GWAS
European

eosinophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-27
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 5.0e-14
N 408,112
Large GWAS
European

platelet count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 5.0e-25
N 408,112
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis

View on ClinVar →
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Research that mentions this SNP (4)

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TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population
AssociationN=569Yipeng Ding et al.(2019)· Molecular Genetics &amp; Genomic Medicine

This case-control study examined TERT gene polymorphisms in a Chinese Li population and found three SNPs significantly associated with COPD risk. The dominant model of rs10069690 showed increased COPD susceptibility (OR=1.56, 95% CI=1.01-2.43, p=0.046), while rs2853677 demonstrated significant associations in both codominant (p=0.033) and dominant models (p=0.009), suggesting TERT polymorphisms contribute to COPD pathogenesis.

Traits studied:COPDChronic obstructive pulmonary disease
PubMedDOIMetascience Observatory
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Telomere structure and maintenance gene variants and risk of five cancer types
Meta-analysisN=136,308Sara Karami et al.(2016)· International Journal of Cancer

Meta-analysis of 204,993 SNPs in 22 telomere structure and maintenance genes identified 13 independent SNPs associated with colorectal, breast, prostate, ovarian, and lung cancer risk in 61,851 cases and 74,457 controls of European descent. Seven of these associations were novel findings. Notable findings include rs12655062 (positively associated with prostate cancer, inversely with colorectal/ovarian cancers), rs75316749 (positively associated with colorectal, breast, ovarian, and lung cancers), rs974404 and rs12144215 in DCLRE1B (inversely associated with prostate/lung and colorectal/breast/ovarian cancers respectively), rs34978822 in RTEL1 (inversely associated with prostate/lung cancers), and rs116895242 near POT1 (inversely associated with colorectal, ovarian, and lung cancers).

Traits studied:Aggressive prostate cancerBladder cancerBreast cancerChronic lymphatic leukemiaChronic lymphocytic leukemiaColorectal cancerEndometrial cancerEndometrioid ovarian cancerEsophageal cancerEstrogen receptor negative breast cancerGastric cancerGlioblastomaGliomaGraves diseaseHigh-grade gliomaLung adenocarcinomaLung cancerMelanomaMultiple myelomaNasopharyngeal cancerOsteosarcomaOvarian cancerPancreatic cancerProstate cancerRenal cancerRheumatoid arthritisSerous ovarian cancerSkin cancerSquamous lung cancerTesticular cancer
PubMedDOIMetascience Observatory
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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
AssociationN=828Yan‐li Xing et al.(2016)· Journal of Clinical Laboratory Analysis

Case-control study of 828 Chinese Han participants (410 NSCLC cases, 418 controls) examining TERT gene polymorphisms and their SNP-SNP interactions on non-small cell lung cancer risk. Carriers of the G allele at rs2736100 showed increased NSCLC risk (OR=1.68, 95% CI: 1.28-2.07), as did carriers of the A allele at rs2736098 (OR=1.52, 95% CI: 1.19-1.93). A significant gene-gene interaction was found between rs2736098 and rs2736100 (OR=2.52, 95% CI: 1.68-3.68 for GA/AA and TG/GG combined genotypes versus reference).

Traits studied:Lung adenocarcinomaLung cancerNon-small cell lung cancer
PubMedDOIMetascience Observatory
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Fine‐mapping of a region of chromosome 5p15.33 (TERT‐CLPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated with glioma susceptibility in a Chinese population
AssociationN=2,007Yingjie Zhao et al.(2012)· International Journal of Cancer

Fine-mapping study in Chinese Han population (983 cases, 1,024 controls) identified rs2853677 in TERT significantly associated with glioma risk (adjusted OR 1.96, p=6.8×10⁻⁶). Additionally, a CLPTM1L haplotype G-T-A was associated with increased glioma susceptibility (OR 1.44, p=6.0×10⁻³), suggesting both TERT and CLPTM1L contribute to glioma etiology in this population.

Traits studied:GlioblastomaGlioma
PubMedDOIMetascience Observatory

About TERT

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]

View all TERT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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