rs592828

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.

ascending aorta diameter

Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)

Allele G

OR 0.04

p 1.0e-8

N 33,637

Large GWAS

European

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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