Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 4 2010 2014
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 1998 2000
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2000 2001
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 1.000 2 2000 2001
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 1.000 2 2000 2001
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 1998 1998
dbSNP: rs63751163
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.010 1.000 1 1998 1998