rs117109251

This is a intron variant variant in the CEP126 gene.

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GWAS Catalog Trait Associations (1)

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

matrilysin measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele C

OR 0.47

p 2.0e-14

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

About CEP126

Involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Located in centrosome; ciliary base; and midbody. [provided by Alliance of Genome Resources, Jul 2025]

View all CEP126 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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