Gene entry
AKR1D1
aldo-keto reductase family 1 member D1
- Chromosome
- 7
- Cytoband
- 7q33
- Variants (rsID)
- 16
AKR1D1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q33). Its official name is “aldo-keto reductase family 1 member D1”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs121918342Conflicting interpretationssingle nucleotide variantCongenital bile acid synthesis defect 2
- rs267606650Pathogenicsingle nucleotide variantCongenital bile acid synthesis defect 2
- rs201702426Uncertain significancesingle nucleotide variant
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.