Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. | 30279455 | 2018 |
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T | 0.700 | GeneticVariation | CLINVAR | APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. | 28350801 | 2017 |
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T | 0.700 | GeneticVariation | CLINVAR | Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. | 26803359 | 2016 |
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T | 0.700 | GeneticVariation | CLINVAR | Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family. | 25948718 | 2015 |
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T | 0.700 | GeneticVariation | CLINVAR | Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. | 26402770 | 2015 |
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T | 0.700 | GeneticVariation | CLINVAR | Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. | 23224319 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions. | 19363265 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. | 15365148 | 2004 |
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T | 0.700 | GeneticVariation | CLINVAR | Familial Alzheimer disease associated with A713T mutation in APP. | 15488330 | 2004 |
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T | 0.700 | GeneticVariation | CLINVAR | More missense in amyloid gene. | 1303275 | 1992 |