|
rs143624519
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A recently identified Tau variant, p.A152T, has been reported as a risk factor for frontotemporal dementia-related disorders and Alzheimer disease.
|
29894752 |
2018 |
|
rs143624519
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD).
|
28594853 |
2017 |
|
rs1470543813
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript.
|
28069311 |
2017 |
|
rs1475170339
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BNIP1 expression was significantly reduced in spinal cord motor neurons from patients with ALS (4 controls: mean age, 60.5 years, mean [SE] value, 3984 [760.8] arbitrary units [AU]; 7 patients with ALS: mean age, 56 years, mean [SE] value, 1999 [274.1] AU; P = .02), in an ALS mouse model (mean [SE] value, 13.75 [0.09] AU for 2 SOD1 WT mice and 11.45 [0.03] AU for 2 SOD1 G93A mice; P = .002) and in brains of patients with PSP (80 controls: 39 females; mean age, 82 years, mean [SE] value, 6.8 [0.2] AU; 84 patients with PSP: 33 females, mean age 74 years, mean [SE] value, 6.8 [0.1] AU; β = -0.19; P = .009) or FTD (11 controls: 4 females; mean age, 67 years; mean [SE] value, 6.74 [0.05] AU; 17 patients with FTD: 10 females; mean age, 69 years; mean [SE] value, 6.53 [0.04] AU; P = .005).
|
29630712 |
2018 |
|
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 |
|
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 |
|
rs1566630811
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1566630884
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1566650594
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
|
20634584 |
2010 |
|
rs1566650594
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
|
rs1566650594
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
|
26194182 |
2015 |
|
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 |
|
|
|
|
rs1567887777
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1567888461
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1568327531
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1568339821
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1595014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6 × 10(-7)) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia.
|
25778476 |
2016 |
|
rs17042852
|
|
C |
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 |
|
rs1799990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study reports a novel p.S17G mutation in a clinically diagnosed LOAD patient, suggesting that the PRNP mutation is present in Chinese AD patients, whereas, M129V polymorphism is not a risk factor for AD or FTD in the Chinese Han population.
|
27910931 |
2016 |
|
rs1804469
|
|
|
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 |
|
rs1816
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP.
|
12112206 |
2002 |