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: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.760 1.000 6 1999 2018
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 1993 1999
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 1993 2009
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.010 1.000 1 2009 2009
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
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: 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: rs1191139947
rs1191139947 		0.882 0.120 20 4699935 missense variant C/T snv
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1191139947
rs1191139947 		0.882 0.120 20 4699935 missense variant C/T snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1191139947
rs1191139947 		0.882 0.120 20 4699935 missense variant C/T snv
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
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: 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: rs16990018
rs16990018 		0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs16990018
rs16990018 		0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs16990018
rs16990018 		0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16990018
rs16990018 		0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs16990018
rs16990018 		0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2004 2004
dbSNP: rs17852079
rs17852079 		1.000 0.120 20 4699899 stop gained C/A;T snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.710 1.000 1 2010 2010
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.900 1.000 14 1996 2015