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: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2009 2014
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs781049584
rs781049584 		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 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2002 2002
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs781049584
rs781049584 		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 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 1998 1998
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-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 2012 2012
dbSNP: rs781049584
rs781049584 		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 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0542476
Disease: Forgetful
Forgetful 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2008 2008
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: rs200154785
rs200154785 		0.925 0.240 21 25997362 missense variant T/A snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002