Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation BEFREE Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. 18490011

2008
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation UNIPROT A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 11891833

2002
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation UNIPROT Pick's disease associated with the novel Tau gene mutation K369I. 11601501

2001
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation UNIPROT Taken together, the present findings indicate that the K257T mutation in Tau can cause a dementing condition similar to Pick's disease. 11089577

2000
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation UNIPROT Pick's disease is associated with mutations in the tau gene. 11117542

2000
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation BEFREE Taken together, the present findings indicate that the K257T mutation in Tau can cause a dementing condition similar to Pick's disease. 11089577

2000
dbSNP: rs63750129
rs63750129
MAPT
0.820 GeneticVariation UNIPROT Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 10604746

1999
dbSNP: rs63750129
rs63750129
MAPT
C 0.820 CausalMutation CLINVAR