Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9897526
rs9897526
GRN
0.010 GeneticVariation BEFREE The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene. 21343707

2011
dbSNP: rs981951447
rs981951447
RASA1
0.010 GeneticVariation BEFREE We conclude that in the absence of another genetic or environmental 'hit' the A90V variant is not sufficient to cause the deleterious phenotypes associated with ALS and FTD, despite prominent cytoplasmic protein relocalization of TDP-43. 28286471

2017
dbSNP: rs9792144
rs9792144
ST18
G 0.700 GeneticVariation GWASCAT Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. 29724592

2018
dbSNP: rs969413
rs969413
CEP131
0.700 GeneticVariation GWASCAT A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. 26154020

2015
dbSNP: rs964520949
rs964520949
PSPH
0.010 GeneticVariation BEFREE We consider G55R to be a candidate mutation for bvFTD since additional criteria required to establish causality are not yet available for assessment. 24086739

2013
dbSNP: rs9319617
rs9319617
CEP131
0.700 GeneticVariation GWASCAT A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. 26154020

2015
dbSNP: rs9268877
rs9268877
HLA-DRB9
0.710 GeneticVariation BEFREE A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668). 28131168

2017
dbSNP: rs9268877
rs9268877
HLA-DRB9
A 0.710 GeneticVariation GWASDB Frontotemporal dementia and its subtypes: a genome-wide association study. 24943344

2014
dbSNP: rs9268856
rs9268856
HLA-DRB9
C 0.800 GeneticVariation GWASDB Frontotemporal dementia and its subtypes: a genome-wide association study. 24943344

2014
dbSNP: rs9268856
rs9268856
HLA-DRB9
C 0.800 GeneticVariation GWASCAT Frontotemporal dementia and its subtypes: a genome-wide association study. 24943344

2014
dbSNP: rs906175
rs906175
CEP131
T 0.700 GeneticVariation GWASCAT A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. 26154020

2015
dbSNP: rs901115236
rs901115236
CHCHD10 ; LOC107985577
0.010 GeneticVariation BEFREE A heterozygous variant p.A35D (c.104C>A), previously reported in a patient with FTD in Italian population, was identified in a female patient with sporadic LOAD. 27578015

2017
dbSNP: rs867403430
rs867403430
UBE2V1 ; TMEM189-UBE2V1
0.010 GeneticVariation BEFREE Our data show not only that the IVS1 + 5G > C mutation has an exclusive association with FTLD-TDP type A proteinopathy but also that other proteinopathies can occur and should be looked for. 29370838

2018
dbSNP: rs866802945
rs866802945
MAPT
0.010 GeneticVariation BEFREE Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. 15122701

2004
dbSNP: rs866604606
rs866604606
MAPK1
0.010 GeneticVariation BEFREE Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype. 14757934

2003
dbSNP: rs863225291
rs863225291
VCP
0.010 GeneticVariation BEFREE This study expands the genotypic spectrum of the missense mutations of the VCP gene with a novel p.Asn91Tyr variant found in a Brazilian family presenting with the unusual intrafamiliar association of myopathy with rimmed vacuoles, ALS and FTD. 27538664

2016
dbSNP: rs80356730
rs80356730
TARDBP
0.010 GeneticVariation BEFREE The reduction in miR-9 expression was confirmed in human neurons derived from iPSC lines containing the more pathogenic TARDBP M337V mutation, suggesting miR-9 downregulation might be a common pathogenic event in FTD/ALS. 24143176

2013
dbSNP: rs80356726
rs80356726
TARDBP
0.030 GeneticVariation BEFREE Using TDP-43(A315T) mice, an ALS and FTD model with marked cortical pathology, we found that hyperactive somatostatin interneurons disinhibited layer 5 pyramidal neurons (L5-PNs) and contributed to their excitotoxicity. 26900927

2016
dbSNP: rs80356726
rs80356726
TARDBP
0.030 GeneticVariation BEFREE Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model. 23798570

2013
dbSNP: rs80356726
rs80356726
TARDBP
0.030 GeneticVariation BEFREE Short-term suppression of A315T mutant human TDP-43 expression improves functional deficits in a novel inducible transgenic mouse model of FTLD-TDP and ALS. 26437864

2015
dbSNP: rs80356715
rs80356715
TARDBP
0.030 GeneticVariation BEFREE We conclude that in the absence of another genetic or environmental 'hit' the A90V variant is not sufficient to cause the deleterious phenotypes associated with ALS and FTD, despite prominent cytoplasmic protein relocalization of TDP-43. 28286471

2017
dbSNP: rs80356715
rs80356715
TARDBP
0.030 GeneticVariation BEFREE The p.A90V and p.G357R variations were detected in the same patient and p.R361T was present in a family with both ALS and frontotemporal dementia-ALS. 22456481

2012
dbSNP: rs80356715
rs80356715
TARDBP
0.030 GeneticVariation BEFREE We generated multiple iPSC lines from an FTD/ALS patient with the TARDBP A90V mutation and from an unaffected family member who lacked the mutation. 24143176

2013
dbSNP: rs794729672
rs794729672
GRN
GC 0.700 CausalMutation CLINVAR

dbSNP: rs794729671
rs794729671
GRN
GT 0.700 CausalMutation CLINVAR