rs781049584, APP

N. diseases: 18
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.080 1.000 8 2002 2014
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.040 1.000 4 1997 2007
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
21 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.020 1.000 2 2009 2014
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2010 2010
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2008 2008
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2008 2008
Forgetful
CUI: C0542476
Disease: Forgetful
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2004 2004
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
Herpes Simplex Infections
CUI: C0019348
Disease: Herpes Simplex Infections
11 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 1998 1998
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2014 2014
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2011 2011
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2004 2004
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2008 2008
Obesity
CUI: C0028754
Disease: Obesity
1111 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2011 2011
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
58 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2002 2002