Variant (rsID / SNP)
rs129914
rs129914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBH. Location: chromosome 9, position 136,523,847. Clinical significance in the table: Benign.
Reference-table entries
DBHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:136523847
- Cytoband
- 9q34.2
- HGVS
- NM_000787.4(DBH):c.*278T>C
- Allele change
- Silent
Associated conditions / phenotypes
Dopamine beta-hydroxylase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.