Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE An exonic missense mutation in the G72 (DAOA) gene (rs2391191, P = 1.94 × 10(-4), P FDR = 9.34 × 10(-3)) was found to modify AOO in PSEN1 E280A AD. 26949549

2016
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. 24239249

2014
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE We studied 75 subjects from the largest multigenerational pedigree in the world (∼5000 people) that segregates a unique form of early-onset Alzheimer's disease (EOAD) caused by a fully penetrant mutation in the Presenilin-1 gene (PSEN1 p.Glu280Ala [E280 A]). 24239247

2014
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study. 21296022

2011
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