rs63751068
|
|
Pick Disease of the Brain
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
rs63751068
|
|
Pick Disease of the Brain
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs63751223
|
|
Pick Disease of the Brain
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs63750590
|
|
Pick Disease of the Brain
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs63749836
|
|
Pick Disease of the Brain
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs63749824
|
|
Pick Disease of the Brain
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs63751287
|
|
Pick Disease of the Brain
|
G |
0.700 |
CausalMutation
|
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |
rs63750082
|
|
Pick Disease of the Brain
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
|
11710891 |
2001 |
rs63750900
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
|
8910898 |
1996 |
rs63750053
|
|
Pick Disease of the Brain
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
|
10447269 |
1999 |
rs63751287
|
|
Pick Disease of the Brain
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
|
11684347 |
2001 |
rs63750900
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
|
9189043 |
1997 |
rs63750083
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
|
21373759 |
2011 |
rs661
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
|
9196071 |
1997 |
rs661
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
|
17553989 |
2007 |
rs661
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs63750900
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs63750231
|
|
Pick Disease of the Brain
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs63750083
|
|
Pick Disease of the Brain
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs63750082
|
|
Pick Disease of the Brain
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs63750053
|
|
Pick Disease of the Brain
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs63750450
|
|
Pick Disease of the Brain
|
G |
0.700 |
CausalMutation
|
CLINVAR |
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
|
25921538 |
2015 |
rs63750900
|
|
Pick Disease of the Brain
|
A |
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 |
rs63750450
|
|
Pick Disease of the Brain
|
G |
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
|
|
Pick Disease of the Brain
|
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 |