Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR More missense in amyloid gene. 1303275

1992
dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE Japanese siblings with missense mutation (717Val --> Ile) in amyloid precursor protein of early-onset Alzheimer's disease. 8649577

1996
dbSNP: rs63751019
rs63751019
PSEN1
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
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. 9052708

1997
dbSNP: rs63749891
rs63749891
PSEN1
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
dbSNP: rs63750399
rs63750399
APP
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
dbSNP: rs63750215
rs63750215
PSEN2
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
dbSNP: rs765670175
rs765670175
PSEN1
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
dbSNP: rs429358
rs429358
APOE
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
dbSNP: rs63750248
rs63750248
PSEN1
0.010 GeneticVariation BEFREE A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease. 9347932

1997
dbSNP: rs63751037
rs63751037
PSEN1
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
dbSNP: rs121917808
rs121917808
PSEN1
0.010 GeneticVariation BEFREE Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. 9831473

1998
dbSNP: rs63751210
rs63751210
PSEN1
0.010 GeneticVariation BEFREE Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. 9831473

1998
dbSNP: rs63750963
rs63750963
PSEN1
0.010 GeneticVariation BEFREE A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. 9833068

1998
dbSNP: rs63749925
rs63749925
PSEN1
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
dbSNP: rs63750322
rs63750322
PSEN1
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
dbSNP: rs63750734
rs63750734
APP
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
dbSNP: rs63750215
rs63750215
PSEN2
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
dbSNP: rs63750646
rs63750646
PSEN1
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
dbSNP: rs63751416
rs63751416
PSEN1
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
dbSNP: rs1275544322
rs1275544322
APP
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
dbSNP: rs63751254
rs63751254
PSEN1
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
dbSNP: rs63750215
rs63750215
PSEN2
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
dbSNP: rs765670175
rs765670175
PSEN1
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
dbSNP: rs63750812
rs63750812
PSEN2
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