rs73594556

This is a upstream gene variant variant in the PSKH1 gene.

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GWAS Catalog Trait Associations (2)

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

dipeptidase 2 measurement

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

Allele A

OR 0.16

p 4.0e-73

N 47,745

Large GWAS

European

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele G

OR —

β 0.076

p 3.0e-40

N 94,674

Large GWAS

multi-ancestry

About PSKH1

Enables protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within determination of left/right symmetry; heart development; and protein phosphorylation. Located in several cellular components, including cilium; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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