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: rs1191863771
rs1191863771 		0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 1998 1998
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 1998 1998
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C2931784
Disease: Amyloid angiopathy
Amyloid angiopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular 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: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 1998 1998
dbSNP: rs139819006
rs139819006 		0.925 0.080 21 26022001 missense variant G/A snv 1.4E-04 6.3E-05
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs139819006
rs139819006 		0.925 0.080 21 26022001 missense variant G/A snv 1.4E-04 6.3E-05
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs63750734
rs63750734 		0.851 0.080 21 25891790 missense variant C/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1999 1999
dbSNP: rs755703063
rs755703063 		1.000 0.160 21 25982430 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs771317418
rs771317418 		0.925 0.080 21 26051117 missense variant A/G snv 2.0E-05 2.1E-05
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs771317418
rs771317418 		0.925 0.080 21 26051117 missense variant A/G snv 2.0E-05 2.1E-05
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 1997 2000
dbSNP: rs1275544322
rs1275544322 		0.882 0.160 21 25975185 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1275544322
rs1275544322 		0.882 0.160 21 25975185 missense variant T/C 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 2000 2000
dbSNP: rs1412095491
rs1412095491 		0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2000 2000
dbSNP: rs1412095491
rs1412095491 		0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1412095491
rs1412095491 		0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1297968881
rs1297968881 		0.882 0.200 21 26112137 missense variant C/T snv 4.0E-06
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2001 2001
dbSNP: rs749453173
rs749453173 		1.000 0.080 21 25997360 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs763852444
rs763852444 		0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs772069024
rs772069024 		0.882 0.080 21 26021858 missense variant C/G;T snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs781215285
rs781215285 		1.000 0.080 21 26051030 missense variant C/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001