rs5880
This is a variant in the CETP gene that changes a alanine to an proline.
▶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.
triglycerides in large LDL measurement
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 0.03
p 2.0e-14
N 450,015
Large GWAS
multi-ancestry
polyunsaturated fatty acid measurement
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-13
N 110,346
Large GWAS
European
lipid measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.13
p 2.0e-8
N 14,296
Large GWAS
European
high density lipoprotein cholesterol measurement
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele G
OR 0.07
p 3.0e-117
N 133,824
Large GWAS
multi-ancestry
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 0.28
p 1.0e-190
N 94,674
Large GWAS
multi-ancestry
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele G
OR 0.35
p 9.0e-41
N 22,000
Large GWAS
South Asian
Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)
Allele G
OR 0.28
p 1.0e-13
N 7,142
Large GWAS
European
Ko A et al. “Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.” Nature Communications 5:3983 (2014)
Allele G
OR 0.29
p 2.0e-16
N 3,701
Large GWAS
Hispanic or Latin American
total 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 0.073
p 2.0e-10
N 94,674
Large GWAS
multi-ancestry
triglyceride 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 0.065
p 4.0e-10
N 94,674
Large GWAS
multi-ancestry
▶ClinVar annotation
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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