Variant (rsID / SNP)
rs283413
rs283413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADH1C. Location: chromosome 4, position 100,268,190. Clinical significance in the table: risk factor.
Reference-table entries
ADH1CRisk factor
- Clinical significance (as recorded)
- risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:100268190
- Cytoband
- 4q23
- HGVS
- NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter)
- Allele change
- Missense_X78G
Associated conditions / phenotypes
Parkinson disease, mitochondrial
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.