rs1800777

This variant is located in the CETP gene.

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GWAS Catalog Trait Associations (9)

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

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.25
p —
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.32
p —
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 5.0e-25
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 4.0e-22
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.06
p 3.0e-20
N 361,194
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 3.0e-12
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein D measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.11
p 6.0e-15
N 47,745
Large GWAS
European

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 8.0e-10
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

C-reactive protein measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.03
p 5.0e-8
N 575,531
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Hyperalphalipoproteinemia 1; not provided; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Association of Cholesteryl Ester Transfer Protein Genotypes With CETP Mass and Activity, Lipid Levels, and Coronary Risk
Meta-analysisN=195,833Thompson A. et al.(2008)· JAMA

Systematic review of 92 lipid studies (113,833 participants) and 46 coronary disease studies (82,534 participants) examining CETP polymorphisms. TaqIB rs708272 A allele associated with 9.7% decreased CETP mass, 8.6% decreased CETP activity, 4.5% increased HDL-C (95% CI: 3.8%-5.2%), and weakly inverse association with coronary disease (OR 0.95, 95% CI: 0.92-0.99).

Traits studied:Apolipoprotein A-ICETP activityCETP massCoronary artery diseaseHDL cholesterol
PubMedDOIMetascience Observatory

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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