rs10418164

This is a intron variant variant in the CEP89 gene.

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GWAS Catalog Trait Associations (2)

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

homocitrulline measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele G

OR 0.20

p 6.0e-18

N 4,761

Large GWAS

European

urate measurement

Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)

Allele T

OR 0.03

p 6.0e-11

N 346,213

Large GWAS

European, South Asian, East Asian, African American or Afro-Caribbean, Hispanic or Latin American

About CEP89

Involved in mitochondrial cytochrome c oxidase assembly and non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including microtubule cytoskeleton; mitochondrial intermembrane space; and nuclear body. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Jul 2025]

View all CEP89 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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