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: rs1179768627
rs1179768627
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE The L235R mutation had not been previously reported, although other mutations in the same residue have also been associated with familial early-onset AD, providing support for the importance of this residue for the presenilin-1 function. 21501661 2011