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: rs165932
rs165932
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.020 GeneticVariation BEFREE The association of an intronic polymorphism (rs165932) of the presenilin-1 gene with late-onset Alzheimer's disease has been documented. 19017784 2008
dbSNP: rs165932
rs165932
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.020 GeneticVariation BEFREE The association between presenilin 1 intronic polymorphism (rs165932) and late onset Alzheimer's disease (LOAD) has been a matter of controversy. 16938285 2006
dbSNP: rs115865530
rs115865530
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation. 28269784 2017
dbSNP: rs906454643
rs906454643
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease. 26549787 2016
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