Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 27082848

2017
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. 26220942

2015
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. 19498037

2009
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. 14568818

2003
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352

2007
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057

1999
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802

1999
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients. 26373282

2015
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein. 26143746

2015
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation. 16219306

2005
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau. 22723997

2012
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. 26220942

2015
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation. 11756436

2002
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model. 26519432

2016
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome. 26269332

2015
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Investigating degeneration of the retina in young and aged tau P301L mice. 25592136

2015
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders. 22022446

2011
dbSNP: rs63751438
rs63751438
MAPT
T 0.900 CausalMutation CLINVAR

dbSNP: rs63750570
rs63750570
MAPT
A 0.850 CausalMutation CLINVAR

dbSNP: rs63750349
rs63750349
MAPT
G 0.830 CausalMutation CLINVAR

dbSNP: rs63751165
rs63751165
MAPT
A 0.830 CausalMutation CLINVAR

dbSNP: rs63750376
rs63750376
MAPT
T 0.820 CausalMutation CLINVAR

dbSNP: rs63750711
rs63750711
MAPT
T 0.810 CausalMutation CLINVAR