rs63750301, PSEN1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.010 GeneticVariation BEFREE This case highlights an unusual clinical presentation of familial Alzheimer's disease and a novel presentation of the P264L mutation. 23579325 2013
Dementia
CUI: C0497327
Disease: Dementia
0.700 GeneticVariation CLINVAR
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.700 GeneticVariation CLINVAR