rs63750215, PSEN2

N. diseases: 19
Disease: Childhood Neuroblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.010 GeneticVariation BEFREE COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2. 9050898 1997