PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE We here show that in human FAD fibroblasts another PS2 mutation (T122R) reduces both Ca2+ release and capacitative Ca2+ entry. 15755689 2005