Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750570
rs63750570
0.040 GeneticVariation BEFREE The biochemical similarity between paired helical filament tau in AD and <i>MAPT</i> V337M predicts that the tau pathology associated with this mutation constitutes a compelling target for [<sup>18</sup>F]AV1451 imaging. 28130473

2017

dbSNP: rs63750570
rs63750570
0.040 GeneticVariation BEFREE In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice. 15601849

2005

dbSNP: rs63750570
rs63750570
0.040 GeneticVariation BEFREE Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease. 12414518

2002

dbSNP: rs63750570
rs63750570
0.040 GeneticVariation BEFREE The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene. 9811325

1998