Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 GeneticVariation UNIPROT

dbSNP: rs63750852
rs63750852
PSEN1
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.010 GeneticVariation BEFREE Our data demonstrated that human Val97Leu mutant presenilin-1 causes spatial memory deficit in mice and increases tau phosphorylation level in glycogen synthase kinase-3-dependent manner. 21929538

2012
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 GeneticVariation BEFREE We previously reported a novel presenilin (PS)1 mutant (V97L) that was expressed in related patients with early onset Alzheimer's disease. 18445230

2008
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation BEFREE Two novel presenilin 1 (PS1) mutations, V97L and A136G, were recently found to be involved in the early-onset of Alzheimer's disease in two Chinese families. 18706205

2008
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. 16916581

2006
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 GeneticVariation BEFREE Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. 16916581

2006
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE Our data reveal that the Presenilin-1 V97L variant can elevate Abeta42 levels both intracellularly and extracellularly, and was a potentially pathogenic mutation for this Chinese FAD pedigree. 16916581

2006
dbSNP: rs63750852
rs63750852
PSEN1
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 GeneticVariation BEFREE Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. 16916581

2006