Variant (rsID / SNP)
rs8432
rs8432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS1. Location: chromosome 11, position 66,299,515. Clinical significance in the table: Benign.
Reference-table entries
BBS1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:66299515
- Cytoband
- 11q13.2
- HGVS
- NM_024649.5(BBS1):c.*7A>G
- Allele change
- Silent
Associated conditions / phenotypes
Bardet-Biedl syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.