rs5744552

This variant is located in the POLK gene.

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GWAS Catalog Trait Associations (11)

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

cholesterol 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 0.03
p 7.0e-58
N 450,015
Large GWAS
multi-ancestry

total cholesterol measurement

Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele C
OR 2.68
p 2.0e-39
N 58,701
Large GWAS
East Asian

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 G
OR 0.04
p 1.0e-36
N 199,732
Large GWAS
European

choline measurement

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 0.02
p 1.0e-28
N 450,015
Large GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.03
p 1.0e-15
N 115,006
Large GWAS
European

sphingomyelin measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.04
p 8.0e-27
N 115,006
Large GWAS
European

lipoprotein measurement, phospholipid level

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.04
p 6.0e-22
N 115,082
Large GWAS
European

level of phosphatidylcholine

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 0.02
p 1.0e-20
N 450,015
Large GWAS
multi-ancestry

phosphoglycerides measurement

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 0.02
p 2.0e-20
N 450,015
Large GWAS
multi-ancestry

phospholipid level

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.03
p 3.0e-12
N 115,006
Large GWAS
European

About POLK

This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]

View all POLK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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