Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer's disease. 29807259

2018

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE This effect closely mimics the phenotype of APP A673T, a recently discovered mutation that protects carriers against AD and age-related cognitive decline. 28115709

2017

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Decreased plasma β-amyloid in the Alzheimer's disease APP A673T variant carriers. 28556232

2017

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Sequencing of <i>APP</i> in familial early-onset AD identified missense mutations that cause AD, while a recently discovered coding variant, APP A673T, reduces the risk for AD. 28003277

2017

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE However, because of the extreme rarity of A673T in non-Nordic populations, the association with Alzheimer's disease has not yet been formally replicated. 26239177

2015

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Rarity of the Alzheimer disease-protective APP A673T variant in the United States. 25531812

2015

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 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: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE The A598T mutation of amyloid precursor protein APP is linked to a reduction in the incidence rate of Alzheimer's disease (AD). 24646423

2014

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Given the previous observation from Asians, our results suggest that the A673T variant is not involved in longevity in Chinese individuals; some other protective mechanisms may contribute to a lower incidence of AD in Chinese nonagenerians and centenarians. 24126161

2014

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases. 23652020

2013

dbSNP: rs63750847
rs63750847
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE Furthermore, as the A673T allele also protects against cognitive decline in the elderly without Alzheimer's disease, the two may be mediated through the same or similar mechanisms. 22801501

2012