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: rs63750066
rs63750066 		0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.700 1.000 10 1992 2018
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: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 1993 2005
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: rs1800557
rs1800557 		0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 1994 1995
dbSNP: rs1800557
rs1800557 		0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 1994 1994
dbSNP: rs1800557
rs1800557 		0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 1994 1994
dbSNP: rs950592627
rs950592627 		0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs371425292
rs371425292 		0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1995 2016
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: 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: rs762508225
rs762508225 		0.925 0.080 21 26000044 missense variant T/G snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1996 2008
dbSNP: rs63750363
rs63750363 		1.000 0.080 21 25897642 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996
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: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 1997 2008
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 1997 2007
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: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1997 1997
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs63750399
rs63750399 		0.882 0.080 21 25891787 missense variant T/A;C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1997 1997
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: rs371425292
rs371425292 		0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 1998 2018
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