Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
PRNP
0.020 GeneticVariation BEFREE Previous studies reported conflicting results regarding possible anticipation in familial E200K Creutzfeldt-Jakob disease (fCJD). 31814268

2020
dbSNP: rs28933385
rs28933385
PRNP
0.020 GeneticVariation BEFREE To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation. 19822779

2009