rs5883
This variant is located in the CETP gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 T
OR 0.15
p 4.0e-153
N 325,634
Major Consortium StudyLarge 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 T
OR 0.11
p 3.0e-35
N 94,674
Large GWAS
multi-ancestry
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 T
OR 0.11
p 4.0e-90
N 323,833
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 T
OR 0.03
p 3.0e-9
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
6 submitters5 publicationsHyperalphalipoproteinemia 1; not provided; not specified
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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