Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750687
rs63750687
PSEN1
0.010 GeneticVariation BEFREE The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimer's disease patients. 19797784

2010