Gene entry
BBS1
Bardet-Biedl syndrome 1
- Chromosome
- 11
- Cytoband
- 11q13.2
- Variants (rsID)
- 13
BBS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.2). Its official name is “Bardet-Biedl syndrome 1”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs200276861Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1
- rs201872547Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1
- rs35520756Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1
- rs8432Benignsingle nucleotide variantBardet-Biedl syndrome 1
- rs146052054Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1
- rs193922709Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Bardet-Biedl syndrome|Bardet-Biedl syndrome 1
- rs200688985Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1
- rs113624356Pathogenicsingle nucleotide variantBardet-Biedl syndrome 1|Bardet-Biedl syndrome|Retinal dystrophy|Retinitis pigmentosa|Usher syndrome|See cases
- rs121917777Pathogenicsingle nucleotide variantBardet-Biedl syndrome 1|Bardet-Biedl syndrome|Retinitis pigmentosa
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.