rs7734992

This variant is located in the TERT gene.

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GWAS Catalog Trait Associations (9)

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

interstitial lung disease

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.24
p 4.0e-20
N 647,847
Large GWAS
multi-ancestry

thyroid cancer

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele C
OR 0.17
p 4.0e-17
N 1,620,354
Meta-analysisLarge GWAS
multi-ancestry

adipose amount

Ahmed A et al. “MRI-Based Genetic Studies Reveal Specific Genetic Variants and Disease Risks Associated With Fat Distribution Across Anatomical Sites.” Journal of Obesity 2025:7792701 (2025)
Allele T
OR 0.05
p 8.0e-15
N 37,589
Large GWAS
European

respiratory system disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.18
p 1.0e-14
N 447,762
Major Consortium StudyLarge GWAS
European

renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)
Allele C
OR 1.09
p 4.0e-14
N 864,690
Large GWAS
multi-ancestry

neutrophil percentage of leukocytes

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 C
OR 0.02
p 3.0e-11
N 171,542
Large GWAS
European

clear cell renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)
Allele C
OR 1.10
p 9.0e-11
N 759,800
Large GWAS
multi-ancestry

tyrosine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →

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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