PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Sporadic CJD ×
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: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.050 0.800 5 1999 2019
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: rs1800014
rs1800014 		0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.030 1.000 3 2009 2015
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.020 1.000 2 1999 2011
dbSNP: rs74315407
rs74315407 		0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315409
rs74315409 		0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.010 1.000 1 2003 2003