Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750424
rs63750424
0.760 GeneticVariation BEFREE Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs. 31543469

2019

dbSNP: rs63750424
rs63750424
0.760 GeneticVariation BEFREE Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10‰+‰16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10‰+‰16). 29253099

2018

dbSNP: rs63750424
rs63750424
0.760 GeneticVariation BEFREE Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation. 29716656

2018

dbSNP: rs63750424
rs63750424
0.760 GeneticVariation BEFREE Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. 27345791

2016

dbSNP: rs63750424
rs63750424
0.760 GeneticVariation BEFREE The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. 12368474

2002

dbSNP: rs63750424
rs63750424
0.760 GeneticVariation BEFREE We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 10995239

2000

dbSNP: rs63750424
rs63750424
T 0.760 CausalMutation CLINVAR