Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749805
rs63749805
PSEN1
0.020 GeneticVariation BEFREE Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made. 30567237

2018
dbSNP: rs63749805
rs63749805
PSEN1
0.020 GeneticVariation BEFREE The presenilin-1 (PS1) gene mutation (Pro117Leu), recently identified in a Polish family is characterized by the earliest reported onset (from 24-31 years) of Alzheimer disease (AD) and a very short duration of disease (4-6 years). 9737546

1998