Rs11538758

This SNP occurs at the location coding for Codon 105 of the Prion Protein (PrP). Normally Proline, a mutation to Lucine is associated with inherited Gerstmann-Straussler-Scheineker Syndrome.

The mutant variant has a low likelihood (p=0.00-0.02), but leads to neurodegeneration after approximately age 50 , although symptoms and onset can be highly variable.