rs493573

This is a synonymous variant in the MAP4K2 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

urate measurement

Tin A et al. “Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.” Human Molecular Genetics 20(20):4056-68 (2011)
Allele A
OR 0.80
p 2.0e-17
N 8,651
Large GWAS
African American or Afro-Caribbean
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
View on ClinVar →

About MAP4K2

The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all MAP4K2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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