rs1532624

This is a regulatory region variant variant in the CETP gene.

GWAS Catalog Trait Associations (5)

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

high density lipoprotein cholesterol measurement

Allele C
OR 0.21
p 9.0e-94
N 21,412
Large GWAS
European
Weissglas-Volkov D et al. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Journal of Medical Genetics 50(5):298-308 (2013)
Allele C
OR 0.23
p 1.0e-24
N 2,240
Large GWAS
Hispanic or Latin American
Allele C
OR 2.53
p 3.0e-30
N 1,036
Large GWAS
multi-ancestry

degeneration of macula and posterior pole

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 1.0e-16
N 607,055
Major Consortium StudyLarge GWAS
multi-ancestry

corticoliberin measurement

Allele A
OR 0.04
p 1.0e-14
N 47,745
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter
View on ClinVar →

Research that mentions this SNP (1)

Investigation of genetic risk factors for chronic adult diseases for association with preterm birth
AssociationN=1,792Nadia Falah et al.(2013)· Human Genetics

Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.

Traits studied:Cardiovascular diseaseHeight and weightHemostasis and thrombosisHypertensionInflammatory and immunological diseaseLipids and glucose metabolismMyocardial infarctionObesityPreterm birth

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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