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: rs200396597
rs200396597 		1.000 0.080 21 25881743 missense variant C/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs200396597
rs200396597 		1.000 0.080 21 25881743 missense variant C/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7276737
rs7276737 		21 25885689 intron variant C/T snv 0.18
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs367709245
rs367709245 		1.000 0.080 21 25891634 intron variant TACTTA/- delins 2.3E-03
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1281129992
rs1281129992 		0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06
CUI: C0549117
Disease: Frontal lobe syndrome
Frontal lobe syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs1281129992
rs1281129992 		0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1281129992
rs1281129992 		0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs63750151
rs63750151 		0.882 0.080 21 25891761 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2018
dbSNP: rs63750151
rs63750151 		0.882 0.080 21 25891761 missense variant C/G;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs63750151
rs63750151 		0.882 0.080 21 25891761 missense variant C/G;T snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs63751122
rs63751122 		0.925 0.080 21 25891765 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.710 1.000 1 2019 2019
dbSNP: rs63751122
rs63751122 		0.925 0.080 21 25891765 missense variant A/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1997 2014
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0751071
Disease: Familial Dementia
Familial Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
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: 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: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
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