Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315401
rs74315401
PRNP
0.020 GeneticVariation BEFREE Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. 29509064

2018
dbSNP: rs74315401
rs74315401
PRNP
0.020 GeneticVariation BEFREE In conclusion, the screening for the P102L mutation, or even the sequencing of the PRNP gene should be taken in consideration in patients with late-onset ataxia (>50 years). 18566986

2008