rs778264897
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This specific mutation (S621G) was found in a multi-generational Australian family with ALS/FTD.
|
29021214 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs121909345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.
|
16240349 |
2005 |
rs1157289563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.
|
16240349 |
2005 |
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 |
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 |
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 |
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 |
rs1567885658
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567886206
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567886445
|
|
TTGTGAAGACAGGGTGCACTGCTGTC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567886478
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567887015
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|