rs202227463

This is a protein-altering variant in the PKP3 gene.

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GWAS Catalog Trait Associations (1)

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

anorectal malformation

van de Putte R et al. “Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.” Plos One 14(5):e0217477 (2019)

Allele A

OR —

p 3.0e-16

N 2,428

Large GWAS

European

About PKP3

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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