rs4149310

This is a intron variant variant in the ABCA1 gene.

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GWAS Catalog Trait Associations (12)

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

triglycerides in very large HDL measurement

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-57
N 241,027
Large GWAS
European

level of synaptic vesicle membrane protein VAT-1 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 0.08
p 3.0e-22
N 47,745
Large GWAS
European

level of apolipoprotein A-II 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 0.06
p 9.0e-14
N 47,745
Large GWAS
European

triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 4.0e-13
N 136,016
Large GWAS
multi-ancestry

3-hydroxybutyrate measurement

Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)
Allele T
OR 0.03
p 3.0e-12
N 199,732
Large GWAS
European

non-alcoholic fatty liver disease

Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele A
OR 0.04
p 1.0e-10
N 122,644
Large GWAS
European
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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.

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