rs3824477

This variant is located in the ABCA1 gene.

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GWAS Catalog Trait Associations (7)

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

cholesteryl esters to total lipids in large LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.07
p 2.0e-35
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.11
p 2.0e-15
N 88,329
Large GWAS
European

high density lipoprotein cholesterol measurement

Iotchkova V et al. “Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.” Nature Genetics 48(11):1303-1312 (2016)
Allele A
OR —
β 0.026
p 1.0e-13
N 35,981
Large GWAS
European

linoleic acid measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.07
p 5.0e-9
N 115,006
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About ABCA1

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

View all ABCA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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