| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | BEFREE | Our follow-up of this family may help elucidate E318G's role in AD and globally points to a null effect of this variant. | 30381075 | 2019 |
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|
0.090 | GeneticVariation | BEFREE | A meta-analysis was performed to assess PSEN1 gene polymorphisms (rs1800839 and rs17125721) in Alzheimer's disease (AD) risk. | 28821390 | 2017 |
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|
0.090 | GeneticVariation | BEFREE | Analyses in additional case-control datasets will be required to understand fully the effect of E318G on Alzheimer's disease status. | 27357204 | 2016 |
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|
0.090 | GeneticVariation | BEFREE | The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. | 23990795 | 2013 |
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|
0.090 | GeneticVariation | BEFREE | The E318G mutation has not an assessed pathogenic function, but some data have highlighted a role as a risk factor for AD in a predisposed familiar background. | 18525293 | 2008 |
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|
0.090 | GeneticVariation | BEFREE | The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort. | 15003276 | 2004 |
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0.090 | GeneticVariation | BEFREE | These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease. | 11755019 | 2002 |
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|
0.090 | GeneticVariation | BEFREE | Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease? | 10643802 | 2000 |
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|
0.090 | GeneticVariation | BEFREE | The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. | 9851443 | 1998 |