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: rs63749824
rs63749824
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE In contrast, A79V FAD mutation or FTD-associated mutations (L113P, G183V, and Rins352) did not appear to affect ER Ca(2+) leak function of PS1 in our experiments. 17431506 2007