rs2736100

A SNP in the TERT gene on chromosome 5. Its most notable genotype is A;A: higher risk of Interstitial lung disease, and testicular cancer, 2.1x risk of pulmonary fibrosis

Gene
TERT
Location
Chr 51,286,401 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
45%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CBad1.6x higher risk for glioma developmentMinor · 1.623% of people
  2. A;CBad1.3x higher risk for glioma development, 2.1x risk of pulmonary fibrosisMinor · 1.350% of people
  3. A;AMost notableBadhigher risk of Interstitial lung disease, and testicular cancer, 2.1x risk of pulmonary fibrosisWorth knowing · 2.027% of people

SNPedia records rs2736100 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageC;C 23% A;C 50% A;A 27%
  • European ancestry (Utah)C;C 27% A;C 52% A;A 21%
  • Han Chinese (Beijing)C;C 13% A;C 62% A;A 25%
  • Japanese (Tokyo)C;C 16% A;C 45% A;A 39%
  • Yoruba (Nigeria)C;C 15% A;C 54% A;A 31%
  • African ancestry (Southwest US)C;C 21% A;C 53% A;A 26%
  • Chinese (Denver)C;C 20% A;C 40% A;A 39%
  • Gujarati IndianC;C 40% A;C 51% A;A 9%
  • Luhya (Kenya)C;C 17% A;C 50% A;A 33%
  • Mexican ancestry (Los Angeles)C;C 17% A;C 52% A;A 31%
  • Maasai (Kenya)C;C 33% A;C 54% A;A 14%
  • TuscanC;C 33% A;C 43% A;A 24%

Conditions, medicines and genes

Other TERT SNPs

All TERT SNPs

Notes

From SNPedia

Show notes, about 270 words

23andMe blog rs2736100 C 1.27 Glioma Lung cancer susceptibility locus at 5p15.33. Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. New insights into susceptibility to glioma. Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. Genetic causes of glioma: new leads in the labyrinth. Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population. Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk. Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma. Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis. hTERT cancer risk genotypes are associated with telomere length. Testicular Cancer

Source and license

Adapted from rs2736100 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.