| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.080 | GeneticVariation | BEFREE | Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease. | 31623876 | 2019 |
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0.080 | GeneticVariation | BEFREE | Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. | 27838006 | 2017 |
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0.080 | 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 | 2014 |
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0.080 | 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 |
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0.080 | 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 |
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0.080 | GeneticVariation | BEFREE | A 30-year-old AD-asymptomatic woman with a V717L mutation that was identified by predictive testing of a family with a history of early-onset AD. | 11866650 | 2002 |
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0.080 | GeneticVariation | BEFREE | Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. | 10867787 | 2000 |
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0.080 | GeneticVariation | BEFREE | Japanese siblings with missense mutation (717Val --> Ile) in amyloid precursor protein of early-onset Alzheimer's disease. | 8649577 | 1996 |