Gene entry
B9D1
B9 domain containing 1
- Chromosome
- 17
- Cytoband
- 17p11.2
- Variants (rsID)
- 8
B9D1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p11.2). Its official name is “B9 domain containing 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs149051059Benignsingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome
- rs2296978Benignsingle nucleotide variantMeckel syndrome, type 9
- rs7212549Benignsingle nucleotide variantMeckel syndrome, type 9|Meckel-Gruber syndrome|Joubert syndrome
- rs201299216Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 9|Meckel-Gruber syndrome|Joubert syndrome
- rs771170000Conflicting interpretationssingle nucleotide variantJoubert syndrome|Joubert syndrome 27|B9D1-Related Disorders
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.