rs7839934

This variant is located in the EPPK1 gene.

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GWAS Catalog Trait Associations (1)

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

level of epiplakin in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.15

p 1.0e-122

N 47,745

Large GWAS

European

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ClinVar annotation

Benign

1 submitter

EPPK1-related disorder

View on ClinVar →

About EPPK1

The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]

View all EPPK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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