Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233514
Disease:
Abnormal behavior
0.020 GeneticVariation BEFREE The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease. 20523046 2010
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233514
Disease:
Abnormal behavior
0.020 GeneticVariation BEFREE These transgenic mice showed the same early behavioral disturbances and defects and increased premature death as the APP/London (APP V717I), APP/Swedish (K670N, M671L), and other APP transgenic mice described previously. 10671319 2000
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233514
Disease:
Abnormal behavior
0.010 GeneticVariation BEFREE Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation. 10671319 2000
dbSNP: rs63750671
rs63750671
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233514
Disease:
Abnormal behavior
0.010 GeneticVariation BEFREE Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation. 10671319 2000
dbSNP: rs63750847
rs63750847
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0236848
Disease:
Age-related cognitive decline
0.020 GeneticVariation BEFREE A673T, a rare variant in the amyloid-β precursor protein gene, shows a protective potential against Alzheimer's disease (AD) and age-related cognitive decline in an Icelandic population. 24126161 2014
dbSNP: rs63750847
rs63750847
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0236848
Disease:
Age-related cognitive decline
0.020 GeneticVariation BEFREE A rare amyloid precursor protein gene variant, A673T (rs63750847) was recently reported to protect against Alzheimer's disease and age-related cognitive decline among Icelanders and the same rare variant was observed also in Finnish, Norwegian, and Swedish populations. 24529499 2014
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.060 GeneticVariation BEFREE Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. 11866650 2002
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.060 GeneticVariation BEFREE The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease. 20523046 2010
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.060 GeneticVariation BEFREE A guanine-to-adenine transition in exon 17 of the APP gene resulting in a valine-to-isoleucine substitution at codon 717 was detected in 14 subjects including 6 patients with EOAD. 25138979 2015
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.060 GeneticVariation BEFREE In patients with onset < or =70 years (n = 204), we identified one patient carrying the London APP V717I mutation while no patients carried an APP locus duplication, indicating that APP promoter mutations (n = 2) were more frequently associated with increased risk for early-onset Alzheimer's disease. 16931535 2006
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.060 GeneticVariation BEFREE Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 10867787 2000
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.060 GeneticVariation BEFREE Japanese siblings with missense mutation (717Val --> Ile) in amyloid precursor protein of early-onset Alzheimer's disease. 8649577 1996
dbSNP: rs141941701
rs141941701
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Here, we report a family (family GB) in which early-onset Alzheimer's disease was caused by a novel presenilin 1 mutation (L282V). 11701593 2002
dbSNP: rs367709245
rs367709245
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Additionally, we document an intronic 6 base pair (bp) deletion located 83 bp downstream of exon 17 (rs367709245, IVS17 83-88delAAGTAT), which has a nonsignificantly increased minor allele frequency in our sEOAD cohort (0.006) compared to LOAD (0.002) and controls (0.002). 26803359 2016
dbSNP: rs371425292
rs371425292
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE The Swedish mutation (K595N/M596L) of amyloid precursor protein (APP-swe) has been known to increase abnormal cleavage of cellular APP by Beta-secretase (BACE), which causes tau protein hyperphosphorylation and early-onset Alzheimer's disease (AD). 21034535 2011
dbSNP: rs572842823
rs572842823
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE The Swedish mutation (K595N/M596L) of amyloid precursor protein (APP-swe) has been known to increase abnormal cleavage of cellular APP by Beta-secretase (BACE), which causes tau protein hyperphosphorylation and early-onset Alzheimer's disease (AD). 21034535 2011
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Early-onset Alzheimer disease in this family was associated with a V717G mutation in the amyloid precursor protein gene (APP). 19950418 2010
dbSNP: rs63750399
rs63750399
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
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: rs63750734
rs63750734
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
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: rs63750921
rs63750921
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. 24880964 2015
dbSNP: rs772069024
rs772069024
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Here, we report a family (family GB) in which early-onset Alzheimer's disease was caused by a novel presenilin 1 mutation (L282V). 11701593 2002
dbSNP: rs778758780
rs778758780
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. 12925374 2003
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1863053
Disease:
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
0.700 GeneticVariation UNIPROT A system for studying the effect(s) of familial Alzheimer disease mutations on the processing of the beta-amyloid peptide precursor. 8476439 1993
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1863053
Disease:
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
0.700 GeneticVariation UNIPROT Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. 1944558 1991
dbSNP: rs63750064
rs63750064
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1863053
Disease:
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
0.700 GeneticVariation UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367 2004