rs3740996

This is a protein-altering variant in the TRIM5 gene.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 9.0e-25
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes
AssociationN=714Inna G. Ovsyannikova et al.(2010)· Human Genetics

A candidate gene association study of 714 healthy children examined associations between 148 SNPs in innate immunity genes (TLR, vitamin A and D receptors, RIG-I pathway, TRIM factors) and rubella vaccine-induced cytokine responses. Twenty-two significant associations (P = 0.002–0.048) were found, including rs3740996 (His43Tyr) and rs10838525 (Gln136Arg) in TRIM5 with TNFα and IL-2/GM-CSF responses, and rs5743305 in TLR3 with GM-CSF secretion.

Traits studied:Rubella vaccine-induced cytokine responseRubella virus-specific GM-CSF secretionRubella virus-specific IFNγ secretionRubella virus-specific IL-10 secretionRubella virus-specific IL-12p40 secretionRubella virus-specific IL-2 secretionRubella virus-specific IL-4 secretionRubella virus-specific IL-5 secretionRubella virus-specific IL-6 secretionRubella virus-specific TNFα secretion
PubMedDOIMetascience Observatory

About TRIM5

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]

View all TRIM5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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