rs528301822

This variant is located in the TERF2 gene.

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GWAS Catalog Trait Associations (2)

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 A
OR 0.03
p 9.0e-39
N 438,351
Major Consortium StudyLarge GWAS
European

daytime rest measurement

Dashti HS et al. “Genetic determinants of daytime napping and effects on cardiometabolic health.” Nature Communications 12(1):900 (2021)
Allele T
OR 0.01
p 1.0e-12
N 452,633
Large GWAS
European

About TERF2

This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]

View all TERF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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