PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Familial Alzheimer Disease (FAD) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749880
rs63749880
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE Compared with the previously reported cases of same Gly209 mutation (G209V), the clinical features of the G209R-FAD cases appear to be less critical than those of G209V-FAD cases, although the Gly to Arg mutation is considered to be less conservative than the Gly to Val mutation. 10447269 1999