rs7024300

This variant is located in the ABCA1 gene.

▶

GWAS Catalog Trait Associations (7)

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

total lipids in IDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.06
p 2.0e-27
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in very large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 6.0e-20
N 450,015
Large GWAS
multi-ancestry

level of phospholipid transfer protein in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.11
p 5.0e-16
N 47,745
Large GWAS
European

high density lipoprotein cholesterol measurement

Wakil SM et al. “A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs.” Clinical Genetics 90(6):518-525 (2016)
Allele T
OR 1.45
p 1.0e-8
N 4,082
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…