Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
0.030 GeneticVariation BEFREE The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352

2007
dbSNP: rs63750756
rs63750756
MAPT
0.030 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306

2005
dbSNP: rs63750756
rs63750756
MAPT
0.030 GeneticVariation BEFREE A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802

1999