PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Late Onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765670175
rs765670175
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE The best studied N141I mutation produces an Alzheimer's disease phenotype with a wide range of onset ages overlapping both early and late onset Alzheimer's disease, often associated with seizures, high penetrance and typical Alzheimer's disease neuropathology. 20375137 2010