rs1773561

This variant is located in the CD247 gene.

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GWAS Catalog Trait Associations (2)

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

hypothyroidism

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele T
OR 1.05
p 7.0e-10
N 691,986
Large GWAS
European

chronic rhinosinusitis with nasal polyps

Saarentaus EC et al. “131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma.” Nature Communications 16(1):9879 (2025)
Allele T
OR 1.10
p 3.0e-9
N 695,228
Large GWAS
European

About CD247

The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all CD247 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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