rs63751210, PSEN1

N. diseases: 5
Disease: Myoclonus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.010 GeneticVariation BEFREE Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. 11764087 2001