Gene: APP ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750064
rs63750064
APP
0.720 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997
dbSNP: rs63749964
rs63749964
APP
0.710 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997
dbSNP: rs63750399
rs63750399
APP
0.700 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997
dbSNP: rs63750643
rs63750643
APP
0.700 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997
dbSNP: rs63750264
rs63750264
APP
0.900 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750066
rs63750066
APP
0.730 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750064
rs63750064
APP
0.720 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63749964
rs63749964
APP
0.710 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750399
rs63750399
APP
0.700 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750643
rs63750643
APP
0.700 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750264
rs63750264
APP
T 0.900 CausalMutation CLINVAR Although these data open perspectives for therapy of AD by gamma-secretase inhibition, the neuronal absence of PS1 failed to rescue the cognitive defect, assessed by the object recognition test, of the parent APP[V717I] transgenic mice. 11978821

2002
dbSNP: rs63750643
rs63750643
APP
0.700 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750264
rs63750264
APP
0.900 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750066
rs63750066
APP
0.730 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750064
rs63750064
APP
0.720 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63749964
rs63749964
APP
0.710 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750399
rs63750399
APP
0.700 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. 27858710

2017
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs63750264
rs63750264
APP
A 0.900 CausalMutation CLINVAR APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain. 7806491

1994
dbSNP: rs63750264
rs63750264
APP
0.900 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572

1993