Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
0.900 GeneticVariation BEFREE [<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. 30773680

2019

dbSNP: rs63751273
rs63751273
0.900 GeneticVariation BEFREE Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation. 31537395

2019

dbSNP: rs63751273
rs63751273
0.900 GeneticVariation BEFREE Remarkably, the P301L mutation, related to frontotemporal dementia FTDP-17, impairs this mechanism leading to a loss of function. 30664870

2019

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation BEFREE In the present study, we used mice transgenic for human tau with the frontotemporal dementia with parkinsonism-associated P301S mutation. 30847469

2019

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation BEFREE We have previously recapitulated aspects of human FTD in mouse models by overexpressing mutant human tau in CNS neurons, including a P301S tau variant in TAU58/2 mice, characterized by early-onset and progressive behavioral deficits and FTD-like neuropathology. 31366728

2019

dbSNP: rs63750424
rs63750424
0.800 GeneticVariation BEFREE Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs. 31543469

2019

dbSNP: rs387906711
rs387906711
0.030 GeneticVariation BEFREE Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells. 31802140

2019

dbSNP: rs387906711
rs387906711
0.030 GeneticVariation BEFREE Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%). 30348461

2019

dbSNP: rs387906709
rs387906709
0.020 GeneticVariation BEFREE Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%). 30348461

2019

dbSNP: rs387906709
rs387906709
0.020 GeneticVariation BEFREE Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells. 31802140

2019

dbSNP: rs1295855402
rs1295855402
0.010 GeneticVariation BEFREE Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia. 31402617

2019

dbSNP: rs1399104933
rs1399104933
0.010 GeneticVariation BEFREE Here we report an ALS/FTD kindred with a novel K181E TDP-43 mutation that is located in close proximity to the RRM1 domain. 31605140

2019

dbSNP: rs1417373701
rs1417373701
0.010 GeneticVariation BEFREE We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing. 30672142

2019

dbSNP: rs33949390
rs33949390
0.010 GeneticVariation BEFREE A common splice-site variant rs514492 in the FTD-causal gene VCP showed a positive association with AD risk (P = 0.0003, OR = 1.618), whereas the rare missense variant rs33949390 (p. R 1628P) in the LBD-causal gene LRRK2 showed a protective effect on AD risk (P = 0.0004, OR = 0.170). 30954774

2019

dbSNP: rs377163259
rs377163259
0.010 GeneticVariation BEFREE We have used a combined structural and cell biological approach to study if two frontotemporal dementia (FTD)-associated pathologic mutations, V337M and N279K, affect the aggregation, conformation and cellular internalization of the tau four-repeat domain (K18) fragment. 31338022

2019

dbSNP: rs514492
rs514492
VCP
0.010 GeneticVariation BEFREE A common splice-site variant rs514492 in the FTD-causal gene VCP showed a positive association with AD risk (P = 0.0003, OR = 1.618), whereas the rare missense variant rs33949390 (p. R 1628P) in the LBD-causal gene LRRK2 showed a protective effect on AD risk (P = 0.0004, OR = 0.170). 30954774

2019

dbSNP: rs72824905
rs72824905
0.010 GeneticVariation BEFREE We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). 31131421

2019

dbSNP: rs758576072
rs758576072
0.010 GeneticVariation BEFREE We have used a combined structural and cell biological approach to study if two frontotemporal dementia (FTD)-associated pathologic mutations, V337M and N279K, affect the aggregation, conformation and cellular internalization of the tau four-repeat domain (K18) fragment. 31338022

2019

dbSNP: rs767076633
rs767076633
0.010 GeneticVariation BEFREE We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing. 30672142

2019

dbSNP: rs773403329
rs773403329
0.010 GeneticVariation BEFREE We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing. 30672142

2019

dbSNP: rs63750756
rs63750756
0.900 GeneticVariation BEFREE The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases. 30050413

2018

dbSNP: rs63751273
rs63751273
0.900 GeneticVariation BEFREE P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients. 29568692

2018

dbSNP: rs63750424
rs63750424
0.800 GeneticVariation BEFREE Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation. 29716656

2018

dbSNP: rs63750424
rs63750424
0.800 GeneticVariation BEFREE Here, we demonstrate that MAPT p.R406W is sufficient to induce changes in GABA-mediated signaling and synaptic function, which may contribute to the pathogenesis of FTLD-tau and other primary tauopathies. 30546007

2018

dbSNP: rs63750424
rs63750424
0.800 GeneticVariation BEFREE Mutations on tau associated with disease, e.g., R406W in frontotemporal dementia with Parkinsonism linked to chromosome 17, altered its conformation to make it a better substrate for kinases. 29614672

2018