rs4763879

This is a regulatory region variant variant in the CD69 gene.

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GWAS Catalog Trait Associations (1)

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

type 1 diabetes mellitus

Barrett JC et al. “Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.” Nature Genetics 41(6):703-707 (2009)
Allele A
OR 1.09
p 2.0e-11
N 16,559
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis
PubMedDOIMetascience Observatory

About CD69

This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]

View all CD69 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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