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: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2008 2008
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.010 1.000 1 2006 2006
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2008 2008
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs63750852
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.010 1.000 1 2012 2012