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: 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: 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: 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: 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
dbSNP: rs74315413
rs74315413 		0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.820 1.000 13 1989 2018
dbSNP: rs74315406
rs74315406 		0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.810 1.000 12 1989 2010
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.860 1.000 7 2008 2015
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.060 0.833 6 2004 2016
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.030 1.000 3 2002 2011
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2006 2013
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2006 2014
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2006 2008
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.020 1.000 2 1993 2003
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2006 2018
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2015
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.020 0.500 2 2007 2008
dbSNP: rs74315406
rs74315406 		0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 1997 2000
dbSNP: rs74315406
rs74315406 		0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 1997 2000
dbSNP: rs74315406
rs74315406 		0.851 0.160 20 4699870 missense variant A/G snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 1.000 2 1997 2000
dbSNP: rs74315411
rs74315411 		0.882 0.160 20 4699767 missense variant A/G snv
CUI: C1847650
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases; Mental Disorders 0.800 1.000 2 1997 2000
dbSNP: rs74315413
rs74315413 		0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 2000 2010
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: 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