Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1362575880
rs1362575880
PSEN1
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 GeneticVariation BEFREE The effects of these two mutations on presenilin-1 endoproteolysis and β-amyloid (Aβ) production were examined in SH-SY5Y neuroblastoma cells infected with lentiviruses expressing presenilin-1 wild type (WT), I249L and P433S mutants. 31235249

2019