Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
0.040 GeneticVariation BEFREE Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). 17196872

2007

dbSNP: rs63750756
rs63750756
0.040 GeneticVariation BEFREE Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. 12056930

2002

dbSNP: rs63750756
rs63750756
0.040 GeneticVariation BEFREE Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. 12492138

2002

dbSNP: rs63750756
rs63750756
0.040 GeneticVariation BEFREE The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism. 10802785

2000