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: rs1038162399
rs1038162399 		0.925 0.080 21 25911954 missense variant G/A snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1038162399
rs1038162399 		0.925 0.080 21 25911954 missense variant G/A snv 4.0E-06
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 2010 2010
dbSNP: rs1041833271
rs1041833271 		0.925 0.080 21 25975995 missense variant C/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1041833271
rs1041833271 		0.925 0.080 21 25975995 missense variant C/T snv 7.0E-06
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs113145702
rs113145702 		1.000 0.080 21 25955632 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1162419578
rs1162419578 		0.925 0.160 21 25975126 missense variant G/A snv 4.0E-06
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1162419578
rs1162419578 		0.925 0.160 21 25975126 missense variant G/A snv 4.0E-06
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1183474845
rs1183474845 		1.000 0.080 21 26053328 missense variant C/T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1191863771
rs1191863771 		0.925 0.080 21 25911833 missense variant A/G 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 2004 2004
dbSNP: rs1191863771
rs1191863771 		0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
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: rs1193124736
rs1193124736 		0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1193124736
rs1193124736 		0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1193124736
rs1193124736 		0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1193124736
rs1193124736 		0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1200601649
rs1200601649 		0.925 0.080 21 26022022 missense variant A/C snv
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 2002 2002
dbSNP: rs1200601649
rs1200601649 		0.925 0.080 21 26022022 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1208508997
rs1208508997 		1.000 0.080 21 26051097 missense variant G/C 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 2014 2014
dbSNP: rs1216578110
rs1216578110 		1.000 0.040 21 25955652 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1220355764
rs1220355764 		0.925 0.080 21 26022037 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1220355764
rs1220355764 		0.925 0.080 21 26022037 missense variant T/C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		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: 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