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: 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: rs2756271
rs2756271 		20 4684616 intron variant A/G;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
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: 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: 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: 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: rs1555782101
rs1555782101 		1.000 20 4699709 stop gained C/G snv
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 		0.700 0
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: 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: rs11538763
rs11538763 		1.000 0.080 20 4699329 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs267606980
rs267606980 		1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06
CUI: C4303462
Disease: Acquired prion disease
Acquired prion disease 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6116475
rs6116475 		1.000 0.080 20 4696723 intron variant A/G snv 0.21
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs74315412
rs74315412 		0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.750 1.000 16 1990 2014
dbSNP: rs74315410
rs74315410 		1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.830 1.000 13 1989 2019
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: 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: 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: rs372878791
rs372878791 		1.000 0.120 20 4699783 missense variant C/G;T snv 3.2E-05; 4.0E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.020 1.000 2 2002 2010
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: 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