rs55781197
This variant is located in the PSKH1 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
apolipoprotein A 1 measurement
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele A
OR 0.06
p 3.0e-75
N 393,193
Large GWAS
European
kit ligand amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.13
p 3.0e-64
N 47,745
Large GWAS
European
Zhao JH et al. “Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.” Nature Immunology 24(9):1540-1551 (2023)
Allele G
OR 0.17
p 4.0e-22
N 14,736
Large GWAS
multi-ancestry
cholesteryl esters to total lipids in large HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.05
p 1.0e-63
N 450,015
Large GWAS
multi-ancestry
level of phosphatidylcholine-sterol acyltransferase 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 G
OR 0.14
p 6.0e-62
N 47,745
Large GWAS
European
cholesteryl esters to total lipids in small HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 4.0e-37
N 450,015
Large GWAS
multi-ancestry
triglycerides to total lipids in large LDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 2.0e-34
N 450,015
Large GWAS
multi-ancestry
hemoglobin measurement
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.04
p 5.0e-27
N 408,112
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele G
OR 0.03
p 6.0e-24
N 928,679
Large GWAS
multi-ancestry
phospholipids:total lipids ratio
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 1.0e-25
N 450,015
Large GWAS
multi-ancestry
cholesterol to total lipids in small LDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 6.0e-22
N 450,015
Large GWAS
multi-ancestry
triglycerides to total lipids in IDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 3.0e-20
N 450,015
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]
View all PSKH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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