Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. 15883319

2005
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Phenotypic heterogeneity within a new family with the MAPT p301s mutation. 16240366

2005
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 12509859

2003
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. 14517953

2003
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Functional effects of tau gene mutations deltaN296 and N296H. 11906000

2002
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059

2002
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Early-onset, rapidly progressive familial tauopathy with R406W mutation. 11889249

2002
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). 12473774

2002
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254

2001
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes. 11278002

2001
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation BEFREE We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter. 11117541

2000
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter. 11117541

2000
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. 11071507

2000
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785

2000
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057

1999
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT A distinct familial presenile dementia with a novel missense mutation in the tau gene. 10208578

1999
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 10374757

1999
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. 10553987

1999
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. 10214944

1999
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
dbSNP: rs63750711
rs63750711
MAPT
0.810 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63750711
rs63750711
MAPT
T 0.810 CausalMutation CLINVAR