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Gene entry

ABCA1

ATP binding cassette subfamily A member 1

Chromosome
9
Cytoband
9q31.1
Variants (rsID)
188

ABCA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q31.1). Its official name is “ATP binding cassette subfamily A member 1”. The reference table lists 188 variants (rsID) for this gene.

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Clinically classified variants

28 reference-table entries with clinical significance.

  • rs138880920Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs1800978Benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs199586194Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs2230805Benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs2230806Benignsingle nucleotide variantCoronary heart disease in familial hypercholesterolemia, protection against|Tangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs2230808Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs2246841Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs2853579Benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs33918808Benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs34879708Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs35207495Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs35561837Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs363717Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs3890182Benignsingle nucleotide variantABCA1 polymorphism
  • rs41277763Benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs4149338Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs4149339Benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs9282537Benignsingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs13306073Conflicting interpretationssingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs35819696Conflicting interpretationssingle nucleotide variantHypoalphalipoproteinemia, primary, 1|Tangier disease
  • rs9282541Conflicting interpretationssingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs138422574Likely benignsingle nucleotide variantTangier disease|Hypoalphalipoproteinemia, primary, 1
  • rs137854495Pathogenicsingle nucleotide variantTangier disease
  • rs2853574Pathogenicsingle nucleotide variantABCA1-Related Disorders
  • rs2853578Pathogenicsingle nucleotide variantTangier disease
  • rs28937313Pathogenicsingle nucleotide variantTangier disease
  • rs28937314Pathogenicsingle nucleotide variantTangier disease
  • rs137854496Uncertain significancesingle nucleotide variantTangier disease|ABCA1-Related Disorders

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.