Variant (rsID / SNP)
rs17636067
rs17636067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASAH1. Location: chromosome 8, position 17,915,126. Clinical significance in the table: Benign.
Reference-table entries
ASAH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:17915126
- Cytoband
- 8p22
- HGVS
- NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile)
- Allele change
- Missense_V369I
Associated conditions / phenotypes
Farber lipogranulomatosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.