Variant (rsID / SNP)
rs2228100
rs2228100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH3A1. Location: chromosome 17, position 19,642,952. The table records no clinical significance for this variant.
Reference-table entries
ALDH3A1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 17:19642952
- HGVS
- NM_000691.5,c.985C>G,p.Pro329Ala
- Allele change
- Missense_P329A
Associated conditions / phenotypes
Keratoconus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.