PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob Disease, Sporadic ×
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: rs28933385
rs28933385 		0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.040 1.000 4 2010 2019
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: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.030 1.000 3 1998 2018
dbSNP: rs1800014
rs1800014 		0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2009 2011
dbSNP: rs74315403
rs74315403 		0.790 0.200 20 4699752 missense variant G/A snv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2010 2019
dbSNP: rs74315409
rs74315409 		0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2010
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: rs74315405
rs74315405 		0.827 0.160 20 4699813 missense variant T/C snv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
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: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs74315412
rs74315412 		0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005