Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778264897
rs778264897
0.020 GeneticVariation BEFREE This specific mutation (S621G) was found in a multi-generational Australian family with ALS/FTD. 29021214

2017

dbSNP: rs148159882
rs148159882
0.010 GeneticVariation BEFREE A rare heterozygous variant (c.481G > A, p.G161R) was detected in a sporadic ALS case with a frequency of 0.6%, while no mutation was identified in patients with FTD. 28281833

2017

dbSNP: rs2659030
rs2659030
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: rs2725391
rs2725391
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: rs906175
rs906175
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: rs9319617
rs9319617
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: rs969413
rs969413
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
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: rs142444896
rs142444896
0.010 GeneticVariation BEFREE Two missense variants, 5C>T (Pro2Leu) and 238A>G (Ile80Val), were identified in five unrelated patients with AD while no mutations were observed in patients with ALS or FTD. 29749507

2018

dbSNP: rs149119842
rs149119842
0.010 GeneticVariation BEFREE Two missense variants, 5C>T (Pro2Leu) and 238A>G (Ile80Val), were identified in five unrelated patients with AD while no mutations were observed in patients with ALS or FTD. 29749507

2018

dbSNP: rs78268395
rs78268395
0.010 GeneticVariation BEFREE In our study we report a novel heterozygous g.26218G>A variant in exon 6 of charged multivesicular body protein 2B (CHMP2B), predicted to cause the amino acid change p.Ser187Asn, in one patient diagnosed with FTD. 20592581

2015

dbSNP: rs6962939
rs6962939
A 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: rs4877365
rs4877365
0.010 GeneticVariation BEFREE It has been reported that two common polymorphisms (rs4878104 and rs4877365) are associated with LOAD, thus we examined the genotype and allele distributions of the above polymorphisms in 681 Italian subjects, including patients with LOAD and FTD. 22785394

2012

dbSNP: rs4878104
rs4878104
0.010 GeneticVariation BEFREE We showed a positive association between rs4878104 and FTD, s</span>uggesting a possible implication of the DAPK1 genetic variant in the susceptibility to FTD. 22785394

2012

dbSNP: rs121909345
rs121909345
0.010 GeneticVariation BEFREE The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD. 16240349

2005

dbSNP: rs1157289563
rs1157289563
0.010 GeneticVariation BEFREE The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD. 16240349

2005

dbSNP: rs538622
rs538622
0.010 GeneticVariation BEFREE At a conditional FDR P < .05, 22 novel ALS polymorphisms were found, including rs538622 (nearest gene, ERGIC1; P = .03 for ALS and FTD), which modifies BNIP1 expression in human brains (35 of 137 females; mean age, 59 years; P = .001). 29630712

2018

dbSNP: rs746478952
rs746478952
0.010 GeneticVariation BEFREE Increased FLNC levels were, to a lesser extent, also identified in a FLNC p.V831I variant carrier and in FTD patients with the p.R159H mutation in valosin-containing protein (VCP). 26555887

2015

dbSNP: rs2732260
rs2732260
A 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: rs36196656
rs36196656
A 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: rs1567885658
rs1567885658
GRN
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1567886206
rs1567886206
GRN
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1567886445
rs1567886445
GRN
TTGTGAAGACAGGGTGCACTGCTGTC 0.700 CausalMutation CLINVAR

dbSNP: rs1567886478
rs1567886478
GRN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567887015
rs1567887015
GRN
TA 0.700 CausalMutation CLINVAR