rs111820395

This is a intron variant variant in the CEP164 gene.

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GWAS Catalog Trait Associations (1)

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

proprotein convertase subtilisin/kexin type 7 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 A

OR 0.46

p 2.0e-11

N 2,935

Large GWAS

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

About CEP164

This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all CEP164 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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