Variant (rsID / SNP)
rs9333594
rs9333594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHH. Location: chromosome 7, position 155,604,941. Clinical significance in the table: Benign.
Reference-table entries
SHHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:155604941
- Cytoband
- 7q36.3
- HGVS
- NM_000193.4(SHH):c.-125G>A
- Allele change
- Silent
Associated conditions / phenotypes
Holoprosencephaly 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.