Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143624519
rs143624519
0.060 GeneticVariation BEFREE A C. elegans model of tauopathy reveals that A152T and A152E tau confer patterns of developmental toxicity distinct from WT tau, likely due to differential effects on retrograde axonal transport. 30590647

2019

dbSNP: rs143624519
rs143624519
0.060 GeneticVariation BEFREE Providing new insight into the role of A152T in modifying risk of tauopathy, as well as validating the Tau<sup>A152T</sup>-AAV model, we demonstrate that the presence of soluble pT153-positive tau species in human postmortem brain tissue differentiates A152T carriers from noncarriers, independent of disease classification. 30674342

2019

dbSNP: rs143624519
rs143624519
0.060 GeneticVariation BEFREE The A152T-variant of human tau (hTau-A152T) increases the risk of Alzheimer's disease (AD) and several other tauopathies. 29859869

2018

dbSNP: rs143624519
rs143624519
0.060 GeneticVariation BEFREE We report a human neuronal model of tauopathy derived from induced pluripotent stem cells (iPSCs) carrying a TAU-A152T mutation. 24319659

2013

dbSNP: rs143624519
rs143624519
0.060 GeneticVariation BEFREE The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. 22595371

2012

dbSNP: rs143624519
rs143624519
0.060 GeneticVariation BEFREE Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7. 21176711

2011