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: rs63750734
rs63750734 		0.851 0.080 21 25891790 missense variant C/T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs63750921
rs63750921 		0.882 0.200 21 25891820 missense variant G/C 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: rs63750921
rs63750921 		0.882 0.200 21 25891820 missense variant G/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
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: 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: rs772069024
rs772069024 		0.882 0.080 21 26021858 missense variant C/G;T snv 4.0E-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: rs201792381
rs201792381 		1.000 0.080 21 25997384 missense variant G/A;C snv 1.6E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.020 1.000 2 2018 2018
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: 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: 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: rs1377512692
rs1377512692 		1.000 0.080 21 25905062 missense variant G/A snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
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: rs201792381
rs201792381 		1.000 0.080 21 25997384 missense variant G/A;C snv 1.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs372702043
rs372702043 		0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs765151011
rs765151011 		1.000 0.040 21 26021880 synonymous variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C0019099
Disease: Hemorrhagic Fever, Crimean
Hemorrhagic Fever, Crimean 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs890815306
rs890815306 		1.000 0.080 21 25997377 missense variant G/A snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1334791875
rs1334791875 		21 25982369 missense variant G/A snv 4.0E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1365502141
rs1365502141 		21 26000017 missense variant G/A snv 7.0E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2830077
rs2830077 		1.000 0.080 21 26130406 intron variant C/A snv 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs63750066
rs63750066 		0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017