rs2293607

This is a coding sequence variant variant in the TERC gene.

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GWAS Catalog Trait Associations (12)

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 T

OR 0.12

p 1.0e-300

N 438,351

Major Consortium StudyLarge GWAS

European

Dorajoo R et al. “Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.” Nature Communications 10(1):2491 (2019)

Allele T

OR 0.12

p 8.0e-39

N 16,759

Large GWAS

multi-ancestry

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)

Allele T

OR 0.09

p 7.0e-36

N 709,132

Meta-analysisLarge GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.08

p 2.0e-19

N 338,926

Large GWAS

multi-ancestry

eosinophil count

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 0.04

p 6.0e-27

N 335,542

Major Consortium StudyLarge GWAS

European

erythrocyte volume

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 0.02

p 1.0e-22

N 480,305

Large GWAS

multi-ancestry

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.02

p 2.0e-14

N 544,127

Large GWAS

European

mean corpuscular hemoglobin

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 0.02

p 4.0e-20

N 478,500

Large GWAS

multi-ancestry

lung adenocarcinoma

Qin N et al. “Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.” Frontiers of Medicine 15(2):275-291 (2021)

Allele T

OR 1.14

p 1.0e-15

N 42,936

Large GWAS

East Asian, European

Dai J et al. “Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.” The Lancet. Respiratory Medicine 7(10):881-891 (2019)

Allele T

OR 1.14

p 1.0e-15

N 42,936

Large GWAS

multi-ancestry

systolic blood pressure

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 0.03

p 4.0e-15

N 609,479

Major Consortium StudyLarge GWAS

multi-ancestry

pulse pressure measurement

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele C

OR 0.20

p 1.0e-11

N 459,777

Large GWAS

multi-ancestry

cancer

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)

Allele T

OR 1.08

p 2.0e-11

N 475,312

Large GWAS

European

non-small cell lung carcinoma

Allele T

OR 1.10

p 2.0e-10

N 54,475

Large GWAS

multi-ancestry

Allele T

OR 1.10

p 2.0e-10

N 54,475

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Dyskeratosis congenita, autosomal dominant 1 (DKCA1); not specified

View on ClinVar →

About TERC

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, and an RNA component, encoded by this gene, that 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. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]

rs2293607

GWAS Catalog Trait Associations (12)

chromosome, telomeric region length

uterine fibroid

eosinophil count

erythrocyte volume

mean corpuscular hemoglobin

lung adenocarcinoma

systolic blood pressure

pulse pressure measurement

cancer

non-small cell lung carcinoma

ClinVar annotation

About TERC

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