Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750847
rs63750847
APP
0.030 GeneticVariation BEFREE An amyloid precursor protein (APP) A673T mutation was found to be protective against Alzheimer's disease (AD) and cognitive decline in the Icelandic population and to associate with decreased levels of plasma β-amyloid in a Finnish population-based cohort. 29807259

2018

dbSNP: rs63750847
rs63750847
APP
0.030 GeneticVariation BEFREE The rare variant A673T in the amyloid-β precursor protein (APP) gene has been shown to reduce the risk of cognitive impairment. 23652020

2013

dbSNP: rs63750847
rs63750847
APP
0.030 GeneticVariation BEFREE We found a coding mutation (A673T) in the APP gene that protects against Alzheimer's disease and cognitive decline in the elderly without Alzheimer's disease. 22801501

2012

dbSNP: rs371425292
rs371425292
APP
0.020 GeneticVariation BEFREE In this study, we examined the effect of obovatol on cognitive deficits in two separate AD models: (i) mice that received intracerebroventricular (i.c.v.) infusion of Aβ(1-42) (2.0 μg/mouse) and (ii) Tg2576 mice-expressing mutant human amyloid precursor protein (K670N, M671L). 22212065

2012

dbSNP: rs572842823
rs572842823
APP
0.020 GeneticVariation BEFREE In this study, we examined the effect of obovatol on cognitive deficits in two separate AD models: (i) mice that received intracerebroventricular (i.c.v.) infusion of Aβ(1-42) (2.0 μg/mouse) and (ii) Tg2576 mice-expressing mutant human amyloid precursor protein (K670N, M671L). 22212065

2012

dbSNP: rs371425292
rs371425292
APP
0.020 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004

dbSNP: rs572842823
rs572842823
APP
0.020 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004

dbSNP: rs1216578110
rs1216578110
APP
0.010 GeneticVariation BEFREE Compared with a non-SUMOylated K501R mutant, injection of wild-type BACE1 significantly increases Aβ production and triggers cognitive dysfunction. 29581300

2018

dbSNP: rs1231783932
rs1231783932
APP
0.010 GeneticVariation BEFREE Although hyperactivity and hypersynchronicity were respectively detected in mice expressing the PS2-N141I or the APP Swedish mutant alone, the increase in cross-frequency coupling specifically characterized the 6-month-old PS2APP mice, just before the surge of the cognitive decline. 27889678

2017

dbSNP: rs1386984902
rs1386984902
APP
0.010 GeneticVariation BEFREE 3xTg mice, which express an APP/PS1 mutation combined with a tau (P301L) mutation and that develop cognitive deficits at 6 months of age, were subjected to ELF-MF (50Hz, 500μT) exposure or sham exposure daily for 3 months. 26945731

2016

dbSNP: rs1396086494
rs1396086494
APP
0.010 GeneticVariation BEFREE The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms. 23850332

2014

dbSNP: rs781049584
rs781049584
APP
0.010 GeneticVariation BEFREE Previously, we have documented that prenatal hypoxia can aggravate the cognitive impairment and Alzheimer's disease (AD) neuropathology in APP(Swe) /PS1(A246E) (APP/PS1) transgenic mice, and valproic acid (VPA) can prevent hypoxia-induced down-regulation of β-amyloid (Aβ) degradation enzyme neprilysin (NEP) in primary neurons. 24289518

2014

dbSNP: rs193922916
rs193922916
APP
0.010 GeneticVariation BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994

2012

dbSNP: rs1223904774
rs1223904774
APP
0.010 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004

dbSNP: rs1800557
rs1800557
APP
0.010 GeneticVariation BEFREE We recently reported an alanine to valine mutation in codon 713 in a single case of chronic familial schizophrenia with cognitive deficits. 8049900

1994