rs2066718

This is a variant in the ABCA1 gene that changes a valine to an methionine.

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GWAS Catalog Trait Associations (21)

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

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 0.12
p 3.0e-63
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry

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 0.11
p 1.0e-49
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.08
p 6.0e-14
N 115,082
Large GWAS
European

cholesterol 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 T
OR 0.08
p 9.0e-41
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.12
p 2.0e-25
N 115,082
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.09
p 1.0e-11
N 136,016
Large GWAS
multi-ancestry

polyunsaturated fatty acids to total fatty acids 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 1.0e-18
N 450,015
Large GWAS
multi-ancestry

cholesterol: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 T
OR 0.09
p 9.0e-14
N 136,016
Large 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 0.05
p 8.0e-13
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters7 publications

Cardiovascular phenotype; Hypoalphalipoproteinemia, primary, 1; Tangier disease (TGD)

View on ClinVar →
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Research that mentions this SNP (1)

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A survey ofABCA1sequence variation confirms association with dementia
AssociationN=3,770Chandra A. Reynolds et al.(2009)· Human Mutation

A genetic association study of 1,567 Swedish dementia cases (including 1,275 with Alzheimer disease) and 2,203 controls identified variants in the ABCA1 gene associated with dementia risk. The strongest association was at rs2230805 (OR = 1.39; 95% CI 1.23-1.57; P = 7.7 × 10⁻⁸), a synonymous variant in exon 5 that was also associated with reduced cerebrospinal fluid β-amyloid-42 levels. Two distinct linkage disequilibrium blocks with signals near the ABCA1 promoter and terminal exon were identified, supporting the involvement of lipid transport genes in neurodegeneration.

Traits studied:Alzheimer diseaseCerebrospinal fluid beta-amyloid-42 levelsCerebrospinal fluid tau levelsDementia
PubMedDOIMetascience Observatory

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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