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: rs80356711
rs80356711 		1.000 20 4699698 stop gained C/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80356711
rs80356711 		1.000 20 4699698 stop gained C/T snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80356711
rs80356711 		1.000 20 4699698 stop gained C/T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs80356711
rs80356711 		1.000 20 4699698 stop gained C/T snv
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 		0.700 0
dbSNP: rs80356710
rs80356710 		0.925 0.040 20 4699655 stop gained T/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.730 1.000 3 2011 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: rs80356710
rs80356710 		0.925 0.040 20 4699655 stop gained T/G snv
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 		0.700 0
dbSNP: rs776593792
rs776593792 		1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.730 1.000 3 2000 2014
dbSNP: rs776593792
rs776593792 		1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2000 2000
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: rs769346296
rs769346296 		1.000 0.120 20 4699807 missense variant A/C snv 6.0E-05 2.8E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2014 2019
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: rs761807915
rs761807915 		0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.720 1.000 13 1989 2013
dbSNP: rs761807915
rs761807915 		0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.020 1.000 2 2007 2011
dbSNP: rs761807915
rs761807915 		0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs761807915
rs761807915 		0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs751882709
rs751882709 		0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 1.000 11 1989 2010
dbSNP: rs751882709
rs751882709 		0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs751882709
rs751882709 		0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2012 2012
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: rs747500244
rs747500244 		20 4699797 missense variant A/G snv 1.2E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs747019990
rs747019990 		0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs747019990
rs747019990 		0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs747019990
rs747019990 		0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs747019990
rs747019990 		0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2014 2014