rs113563886
This is a intron variant variant in the PSKH1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hematocrit
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 0.05
p 1.0e-79
N 394,642
Large GWAS
European
total lipids in large HDL
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.04
p 5.0e-37
N 450,015
Large GWAS
multi-ancestry
cholesteryl esters to total lipids in large HDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele C
OR 0.05
p 9.0e-12
N 88,329
Large GWAS
European
triglycerides in IDL measurement
Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)
Allele C
OR 0.03
p 3.0e-10
N 199,732
Large GWAS
European
polyunsaturated fatty acids to monounsaturated fatty acids ratio
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele C
OR —
p 6.0e-10
N 239,268
Large GWAS
European
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele C
OR —
p 2.0e-8
N 239,268
Large GWAS
European
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]
View all PSKH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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