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Gene entry

ABCB6

ATP binding cassette subfamily B member 6 (LAN blood group)

Chromosome
2
Cytoband
2q35
Variants (rsID)
68

ABCB6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “ATP binding cassette subfamily B member 6 (LAN blood group)”. The reference table lists 68 variants (rsID) for this gene.

Clinically classified variants

11 reference-table entries with clinical significance.

  • rs149202834Benignsingle nucleotide variantLangereis blood group|Acute intermittent porphyria|Protoporphyria, erythropoietic, 1|Variegate porphyria|Hereditary coproporphyria
  • rs149363094Benignsingle nucleotide variantHereditary coproporphyria|Protoporphyria, erythropoietic, 1|Acute intermittent porphyria|Variegate porphyria
  • rs150221689Benignsingle nucleotide variantMicrophthalmia, isolated, with coloboma 7|Variegate porphyria|Acute intermittent porphyria|Protoporphyria, erythropoietic, 1
  • rs57467915Benignsingle nucleotide variantAcute intermittent porphyria|Protoporphyria, erythropoietic, 1|Variegate porphyria|Hereditary coproporphyria
  • rs148458820Othersingle nucleotide variantLangereis blood group
  • rs387906909OtherMicrosatelliteLangereis blood group
  • rs387906910Pathogenicsingle nucleotide variantMicrophthalmia, isolated, with coloboma 7
  • rs148211042Uncertain significancesingle nucleotide variantFamilial pseudohyperkalemia
  • rs200074767Uncertain significancesingle nucleotide variant
  • rs387906911Uncertain significancesingle nucleotide variantMicrophthalmia, isolated, with coloboma 7
  • rs1109866Not classifiedsynonymous_variantSchizophrenia

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.