rs1864163

This is a intron variant variant in the CETP gene.

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GWAS Catalog Trait Associations (26)

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

free cholesterol to total lipids in very 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 A
OR 0.23
p —
N 241,027
Large GWAS
European

high density lipoprotein cholesterol measurement

Willer CJ et al. “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.” Nature Genetics 40(2):161-9 (2008)
Allele G
OR 4.12
p 7.0e-39
N 8,656
Large GWAS
European
Hebbar P et al. “Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.” Journal of Lipid Research 59(10):1951-1966 (2018)
Allele G
OR 5.71
p 1.0e-8
N 1,353
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

phospholipids in VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.06
p 7.0e-36
N 136,016
Large GWAS
multi-ancestry

esterified cholesterol measurement

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 0.05
p 1.0e-33
N 115,082
Large GWAS
European

apolipoprotein B measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 2.0e-25
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement

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 0.05
p 2.0e-24
N 115,082
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.09
p 3.0e-8
N 219,941
Large GWAS
multi-ancestry

intermediate density lipoprotein measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 2.0e-16
N 136,016
Large GWAS
multi-ancestry

age-related macular degeneration

Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)
Allele G
OR 1.22
p 7.0e-16
N 59,494
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About CETP

The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

View all CETP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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