Gene entry
UGT1A1
UDP glucuronosyltransferase family 1 member A1
- Chromosome
- 2
- Cytoband
- 2q37.1
- Variants (rsID)
- 16
UGT1A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q37.1). Its official name is “UDP glucuronosyltransferase family 1 member A1”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs1042640Benignsingle nucleotide variantCrigler-Najjar syndrome|Lucey-Driscoll syndrome|Gilbert syndrome
- rs6742078Benignsingle nucleotide variantBilirubin, serum level of, quantitative trait locus 1|Gilbert syndrome
- rs8330Benignsingle nucleotide variantCrigler-Najjar syndrome|Lucey-Driscoll syndrome|Gilbert syndrome
- rs28900406Conflicting interpretationssingle nucleotide variantCrigler-Najjar syndrome|Lucey-Driscoll syndrome|Gilbert syndrome
- rs35003977Conflicting interpretationssingle nucleotide variantHyperbilirubinemia|Gilbert syndrome|Crigler-Najjar syndrome|Lucey-Driscoll syndrome|Crigler-Najjar syndrome type 1
- rs35350960Conflicting interpretationssingle nucleotide variantGilbert syndrome|Crigler-Najjar syndrome, type II
- rs4124874Conflicting interpretationssingle nucleotide variantGilbert syndrome, susceptibility to|Gilbert syndrome
- rs4148327Conflicting interpretationssingle nucleotide variantHyperbilirubinemia|Gilbert syndrome|Crigler-Najjar syndrome|Lucey-Driscoll syndrome
- rs72551348Likely pathogenicsingle nucleotide variantCrigler-Najjar syndrome, type II
- rs34993780Pathogenicsingle nucleotide variantLucey-Driscoll syndrome|Crigler-Najjar syndrome, type II|Hyperbilirubinemia|Crigler-Najjar syndrome, type II|Lucey-Driscoll syndrome|Bilirubin, serum level of, quantitative trait locus 1|Gilbert syndrome|Crigler-Najjar syndrome type 1|Gilbert syndrome
- rs3755319Pathogenicsingle nucleotide variantLucey-Driscoll syndrome
- rs72551350Pathogenicsingle nucleotide variant
- rs72551351Pathogenicsingle nucleotide variantCrigler-Najjar syndrome type 1
- rs34526305Uncertain significancesingle nucleotide variantHyperbilirubinemia
- rs36076514Uncertain significancesingle nucleotide variantHyperbilirubinemia
- rs55750087Uncertain significancesingle nucleotide variant
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.