PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob disease ×
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: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.900 1.000 44 1990 2019
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.900 1.000 27 1990 2019
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: rs74315407
rs74315407 		0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.870 1.000 18 1990 2016
dbSNP: rs398122370
rs398122370 		0.925 0.160 20 4699851 missense variant G/C snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.830 1.000 13 1990 2010
dbSNP: rs74315403
rs74315403 		0.790 0.200 20 4699752 missense variant G/A snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.800 0.955 22 1990 2015
dbSNP: rs6107516
rs6107516 		1.000 0.120 20 4696446 intron variant G/A snv 0.23
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.800 1.000 1 2012 2012
dbSNP: rs74315409
rs74315409 		0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.770 1.000 18 1990 2013
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: 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: rs193922906
rs193922906 		0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1800014
rs1800014 		0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.070 1.000 7 1998 2015
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.040 1.000 4 1995 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: 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: 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: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
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: rs181348299
rs181348299 		1.000 0.120 20 4699663 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs74315402
rs74315402 		0.882 0.200 20 4699570 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 2009 2009
dbSNP: rs74315405
rs74315405 		0.827 0.160 20 4699813 missense variant T/C snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs74315413
rs74315413 		0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs748929962
rs748929962 		1.000 0.120 20 4699894 missense variant A/G snv 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019