Rs28933385

This SNP affects codon 200 of the Prion Protein gene. Normally a Glutamate, a polymorphism can cause the E200K mutation, which leads to inherited Creuzfeldt-Jakob Disease. The E200K mutation is one of the most common pathogenic Prion disease mutations, with penetrance estimated at 0.56.

The E200K mutation has also been associated with Fatal Familial Insomnia when combined with a codon 129 MM genotype Rs1799990

Some example publications:
Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation.

Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.

Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.

Genetic and environmental factors determining the development of Creutzfeldt-Jakob disease in Libyan Jews.

The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation.

Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.