rs63750634, PSEN1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
0.010 GeneticVariation BEFREE A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. 12686406 2003