Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 24829003

2014
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT EFNS guidelines for the diagnosis and management of Alzheimer's disease. 20831773

2010
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874

2010
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		C 0.800 CausalMutation CLINVAR

dbSNP: rs63751163
rs63751163
PSEN1
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 GeneticVariation BEFREE We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations. 11746362

2001
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 GeneticVariation BEFREE We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations. 11746362

2001
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 GeneticVariation BEFREE We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations. 11746362

2001
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent. 9436726

1998
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation BEFREE PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent. 9436726

1998
dbSNP: rs63751163
rs63751163
PSEN1
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent. 9436726

1998