Variant (rsID / SNP)
rs1042667
rs1042667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOX9. Location: chromosome 17, position 70,120,551. Clinical significance in the table: Benign.
Reference-table entries
SOX9Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:70120551
- Cytoband
- 17q24.3
- HGVS
- NM_000346.4(SOX9):c.*23A>C
- Allele change
- Silent
Associated conditions / phenotypes
Camptomelic dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.