Gene entry
SBDS
SBDS ribosome maturation factor
- Chromosome
- 7
- Cytoband
- 7q11.21
- Variants (rsID)
- 5
SBDS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q11.21). Its official name is “SBDS ribosome maturation factor”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs79344818Benignsingle nucleotide variantShwachman-Diamond syndrome 1
- rs113993992Pathogenicsingle nucleotide variantShwachman-Diamond syndrome 1|Aplastic anemia|Shwachman-Diamond syndrome 1
- rs113993996Uncertain significancesingle nucleotide variantShwachman-Diamond syndrome 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.