rs34065661
This is a variant in the CETP gene that changes a alanine to an glycine.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Choudhury A et al. “Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.” Nature Communications 13(1):2578 (2022)
Allele C
OR 0.34
p 8.0e-102
N 24,616
Meta-analysisLarge GWAS
Sub-Saharan African
Gurdasani D et al. “Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.” Cell 179(4):984-1002.e36 (2019)
Allele C
OR 0.34
p 1.0e-67
N 14,126
Large GWAS
Sub-Saharan African
Andaleon A et al. “Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.” Peerj 6:e4314 (2018)
Allele C
OR 0.47
p 9.0e-10
N 2,782
Large GWAS
multi-ancestry
total cholesterol measurement
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele G
OR 0.09
p 1.0e-23
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
Choudhury A et al. “Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.” Nature Communications 13(1):2578 (2022)
Allele G
OR 0.10
p 3.0e-9
N 24,612
Meta-analysisLarge GWAS
Sub-Saharan African
▶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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