PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
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: rs1178466848
rs1178466848 		0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1178466848
rs1178466848 		0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1178466848
rs1178466848 		0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1178466848
rs1178466848 		0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1292160648
rs1292160648 		20 4699738 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62643364
rs62643364 		0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs74315407
rs74315407 		0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs748929962
rs748929962 		1.000 0.120 20 4699894 missense variant A/G snv 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs775144659
rs775144659 		20 4699816 missense variant C/A snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356710
rs80356710 		0.925 0.040 20 4699655 stop gained T/G snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C4303527
Disease: Variably protease sensitive prionopathy
Variably protease sensitive prionopathy 		Infections; Nervous System Diseases 0.020 0.500 2 2018 2019
dbSNP: rs398122414
rs398122414 		0.925 0.120 20 4699898 stop gained C/A snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs62643364
rs62643364 		0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.010 1.000 1 2018 2018
dbSNP: rs62643364
rs62643364 		0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04
CUI: C0679407
Disease: Gastrointestinal dysfunction
Gastrointestinal dysfunction 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs74315410
rs74315410 		1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs768562045
rs768562045 		20 4699821 missense variant A/T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267606980
rs267606980 		1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.030 1.000 3 2017 2020
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017