APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.900 1.000 58 1991 2019
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.760 1.000 26 1991 2016
dbSNP: rs63750734
rs63750734 		0.851 0.080 21 25891790 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.730 1.000 23 1991 2019
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.710 1.000 21 1991 2005
dbSNP: rs63750064
rs63750064 		0.925 0.080 21 25897605 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.720 1.000 21 1991 2019
dbSNP: rs63750399
rs63750399 		0.882 0.080 21 25891787 missense variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1991 2004
dbSNP: rs63750643
rs63750643 		0.882 0.080 21 25891793 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1991 2004
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 12 2003 2020
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.100 0.909 11 1991 2019
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 10 1998 2018
dbSNP: rs63749810
rs63749810 		0.882 0.200 21 25891853 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.720 1.000 10 2001 2019
dbSNP: rs63751039
rs63751039 		0.776 0.200 21 25891855 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.790 1.000 9 2001 2019
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 1996 2019
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.070 1.000 7 1994 2016
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1992 2007
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 6 1990 2010
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.040 1.000 4 2006 2020
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.040 1.000 4 2006 2020
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.040 1.000 4 2006 2020
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.040 1.000 4 2006 2020
dbSNP: rs193922916
rs193922916 		0.827 0.080 21 25897619 missense variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.740 1.000 4 2009 2017
dbSNP: rs193922916
rs193922916 		0.827 0.080 21 25897619 missense variant G/A;C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2010 2017
dbSNP: rs281865161
rs281865161 		0.925 0.080 21 25897626 missense variant TC/GA mnv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 3 1996 2013
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.020 1.000 2 2004 2012
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.020 1.000 2 2004 2012