rs12602320

This is a regulatory region variant variant in the CCDC57 gene.

GWAS Catalog Trait Associations (1)

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

urate measurement

Major TJ et al. A genome-wide association analysis reveals new pathogenic pathways in gout. Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.01
p 1.0e-9
N 630,117
Large GWAS
European

About CCDC57

Involved in several processes, including G2/M transition of mitotic cell cycle; cilium assembly; and microtubule cytoskeleton organization. Located in centriolar satellite; centriole; and spindle microtubule. [provided by Alliance of Genome Resources, Jul 2025]

View all CCDC57 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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