rs13067940

This is a intron variant variant in the PXK gene.

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GWAS Catalog Trait Associations (2)

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

free cholesterol in very small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele C

OR 0.04

p 3.0e-10

N 136,016

Large GWAS

multi-ancestry

total lipids in very small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele C

OR 0.04

p 8.0e-10

N 136,016

Large GWAS

multi-ancestry

About PXK

This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

View all PXK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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