rs2853672

This is a intron variant variant in the TERT gene.

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GWAS Catalog Trait Associations (5)

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

seborrheic keratosis

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 C
OR 0.15
p 1.0e-185
N 392,469
Major Consortium StudyLarge GWAS
European

skin 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 C
OR 0.08
p 6.0e-61
N 397,744
Major Consortium StudyLarge GWAS
European

Toxic Nodular Goiter

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 C
OR 0.07
p 4.0e-13
N 625,854
Major Consortium StudyLarge GWAS
multi-ancestry

colorectal cancer

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.09
p 5.0e-12
N 637,693
Large GWAS
multi-ancestry

mitochondrial DNA measurement

Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)
Allele A
OR 0.02
p 7.0e-12
N 295,150
Large GWAS
European

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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