rs7927466

This is a intron variant variant in the CNTN5 gene.

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GWAS Catalog Trait Associations (1)

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

gout, hyperuricemia

Kawamura Y et al. “Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.” Annals of the Rheumatic Diseases 78(10):1430-1437 (2019)

Allele A

OR 1.85

p 5.0e-9

N 1,948

Large GWAS

East Asian

About CNTN5

The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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