Variant (rsID / SNP)
rs818706
rs818706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAD. Location: chromosome 9, position 116,148,630. Clinical significance in the table: Benign.
Reference-table entries
ALADBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:116148630
- Cytoband
- 9q32
- HGVS
- NM_000031.6(ALAD):c.*1950G>A
- Allele change
- Silent
Associated conditions / phenotypes
Porphobilinogen synthase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.