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: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 1.000 8 2002 2014
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.040 1.000 4 1997 2007
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.020 1.000 2 2009 2014
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.010 1.000 1 2004 2004
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 1.000 1 2011 2011
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 1.000 1 2002 2002
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0542476
Disease: Forgetful
Forgetful 		0.010 1.000 1 2004 2004
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2014 2014
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2011 2011
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 2010 2010
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 1.000 1 1998 1998
dbSNP: rs781049584
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2008 2008