Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749884
rs63749884
PSEN2
0.040 GeneticVariation BEFREE We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. 22531416

2012
dbSNP: rs63749884
rs63749884
PSEN2
0.040 GeneticVariation BEFREE The presenilin 2 M239I mutation associated with Familial Alzheimer's Disease reduces Ca2+ release from intracellular stores.Neurobiol.Dis.15/2, 269-278]. 15755689

2005
dbSNP: rs63749884
rs63749884
PSEN2
0.040 GeneticVariation BEFREE The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores. 15006697

2004
dbSNP: rs63749884
rs63749884
PSEN2
0.040 GeneticVariation BEFREE Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I. 10822446

2000