rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
More missense in amyloid gene.
|
1303275 |
1992 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Japanese siblings with missense mutation (717Val --> Ile) in amyloid precursor protein of early-onset Alzheimer's disease.
|
8649577 |
1996 |
rs63751019
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we describe a further mutation in the presenilin 1 gene (R269G) in a family with early onset Alzheimer's disease.
|
8910898 |
1996 |
rs63750231
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
|
9052708 |
1997 |
rs63749891
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.
|
9172170 |
1997 |
rs63750399
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s.
|
9328472 |
1997 |
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation.
|
9334350 |
1997 |
rs765670175
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation.
|
9334350 |
1997 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.
|
9343467 |
1997 |
rs63750248
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
|
9347932 |
1997 |
rs63751037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene.
|
9728730 |
1998 |
rs121917808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
|
9831473 |
1998 |
rs63751210
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
|
9831473 |
1998 |
rs63750963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
|
9833068 |
1998 |
rs63749925
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.
|
10090481 |
1999 |
rs63750322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.
|
10090481 |
1999 |
rs63750734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
|
10097173 |
1999 |
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds.
|
10404731 |
1999 |
rs63750646
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Presenilin1 (PSEN1) 1143T and G384A mutations give rise to severe early-onset Alzheimer's disease in two extensively studied Belgian families.
|
10430510 |
1999 |
rs63751416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop.
|
10549825 |
1999 |
rs1275544322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis disclosed a novel mutation (N405S) in the PS1 gene in a Japanese patient with early-onset Alzheimer's disease.
|
10644793 |
2000 |
rs63751254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis disclosed a novel mutation (N405S) in the PS1 gene in a Japanese patient with early-onset Alzheimer's disease.
|
10644793 |
2000 |
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree.
|
10732806 |
1998 |
rs765670175
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree.
|
10732806 |
1998 |
rs63750812
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree.
|
10732806 |
1998 |