Gene entry
ABCG8
ATP binding cassette subfamily G member 8
- Chromosome
- 2
- Cytoband
- 2p21
- Variants (rsID)
- 24
ABCG8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p21). Its official name is “ATP binding cassette subfamily G member 8”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs28517482Benignsingle nucleotide variantSitosterolemia 1
- rs4148211Benignsingle nucleotide variantSitosterolemia 1
- rs9282574Benignsingle nucleotide variantSitosterolemia 1
- rs140690030Conflicting interpretationssingle nucleotide variantSitosterolemia 1
- rs137852987Pathogenicsingle nucleotide variantSitosterolemia|Sitosterolemia 1
- rs137852988Pathogenicsingle nucleotide variantSitosterolemia|Sitosterolemia 1
- rs137852991Pathogenicsingle nucleotide variantSitosterolemia|Sitosterolemia 1
- rs142165666Uncertain significancesingle nucleotide variant
- rs148456883Uncertain significancesingle nucleotide variantSitosterolemia 1
- rs201690654Uncertain significancesingle nucleotide variantSitosterolemia|Sitosterolemia 1
- rs34754243Uncertain significancesingle nucleotide variantSitosterolemia|Sitosterolemia 1
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.