Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CYP1B1

cytochrome P450 family 1 subfamily B member 1

Chromosome
2
Cytoband
2p22.2
Variants (rsID)
40

CYP1B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p22.2). Its official name is “cytochrome P450 family 1 subfamily B member 1”. The reference table lists 40 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

22 reference-table entries with clinical significance.

  • rs1056836Benignsingle nucleotide variantAnterior segment dysgenesis 6|Congenital glaucoma|Glaucoma 3A
  • rs1056837Benignsingle nucleotide variantGlaucoma 3A|Irido-corneo-trabecular dysgenesis|Congenital glaucoma|Anterior segment dysgenesis 6
  • rs10916Benignsingle nucleotide variantIrido-corneo-trabecular dysgenesis|Glaucoma 3A
  • rs162562Benignsingle nucleotide variantIrido-corneo-trabecular dysgenesis|Glaucoma 3A
  • rs1800440Benignsingle nucleotide variantGlaucoma 3A|Congenital glaucoma|Anterior segment dysgenesis 6
  • rs2617266Benignsingle nucleotide variantGlaucoma 3A|Irido-corneo-trabecular dysgenesis|Anterior segment dysgenesis 6
  • rs4986888Benignsingle nucleotide variantCongenital glaucoma|Glaucoma 3A|Irido-corneo-trabecular dysgenesis
  • rs4987134Benignsingle nucleotide variantGlaucoma 3A|Irido-corneo-trabecular dysgenesis
  • rs148542782Conflicting interpretationssingle nucleotide variantIrido-corneo-trabecular dysgenesis|Glaucoma 3A|Primary congenital glaucoma
  • rs57865060Conflicting interpretationssingle nucleotide variantCongenital ocular coloboma|Glaucoma 3A|Irido-corneo-trabecular dysgenesis|Congenital glaucoma
  • rs79204362Conflicting interpretationssingle nucleotide variantGlaucoma, early-onset, digenic|Glaucoma 3A|Congenital ocular coloboma|Irido-corneo-trabecular dysgenesis|Glaucoma 3A|CYP1B1-Related Disorders|Congenital glaucoma|Myopathy, centronuclear, 5
  • rs9282671Conflicting interpretationssingle nucleotide variantPrimary open angle glaucoma|Congenital ocular coloboma|Congenital glaucoma|Glaucoma 3A|Irido-corneo-trabecular dysgenesis
  • rs104893629Pathogenicsingle nucleotide variantGlaucoma, primary open angle, juvenile-onset|Glaucoma 3A
  • rs28936700Pathogenicsingle nucleotide variantGlaucoma 3A|Anterior segment dysgenesis 6|Glaucoma 3, primary infantile, B|Glaucoma 3A|Congenital glaucoma|Anterior segment dysgenesis 6
  • rs28936701Pathogenicsingle nucleotide variantGlaucoma 3A
  • rs55771538Pathogenicsingle nucleotide variantGlaucoma 3A
  • rs55989760Pathogenicsingle nucleotide variantGlaucoma 3A|Glaucoma of childhood|Congenital glaucoma|Primary congenital glaucoma
  • rs56010818Pathogenicsingle nucleotide variantAnterior segment dysgenesis 6
  • rs72549380PathogenicDeletionCongenital glaucoma|Glaucoma 3A|Anterior segment dysgenesis 6
  • rs749073455PathogenicDeletionCongenital glaucoma
  • rs72549382Uncertain significancesingle nucleotide variantGlaucoma 3A
  • rs9341245Uncertain significancesingle nucleotide variantIrido-corneo-trabecular dysgenesis|Glaucoma 3A

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.