Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
0.020 GeneticVariation BEFREE In open field test, N279K mice showed hyperactivity in locomotion and rearing. 16219306

2005

dbSNP: rs63750756
rs63750756
0.020 GeneticVariation BEFREE We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. 12573870

2003