PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Prion Diseases ×
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: 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: rs28933385
rs28933385 		0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.800 0.944 18 1995 2019
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.800 1.000 15 1999 2019
dbSNP: rs74315403
rs74315403 		0.790 0.200 20 4699752 missense variant G/A snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.800 1.000 14 2002 2019
dbSNP: rs74315402
rs74315402 		0.882 0.200 20 4699570 missense variant C/T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.750 1.000 5 1999 2014
dbSNP: rs74315408
rs74315408 		0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.740 1.000 11 1993 2018
dbSNP: rs74315409
rs74315409 		0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.730 1.000 3 2010 2013
dbSNP: rs80356710
rs80356710 		0.925 0.040 20 4699655 stop gained T/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.730 1.000 3 2011 2019
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: rs74315405
rs74315405 		0.827 0.160 20 4699813 missense variant T/C snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 0.500 2 1996 2016
dbSNP: rs74315407
rs74315407 		0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 2011 2015
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: rs74315414
rs74315414 		0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 2008 2011
dbSNP: rs74315411
rs74315411 		0.882 0.160 20 4699767 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.710 1.000 1 2004 2004
dbSNP: rs2756271
rs2756271 		20 4684616 intron variant A/G;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516 		1.000 0.120 20 4696446 intron variant G/A snv 0.23
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs193922906
rs193922906 		0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs74315406
rs74315406 		0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs74315412
rs74315412 		0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs80356711
rs80356711 		1.000 20 4699698 stop gained C/T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs1800014
rs1800014 		0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.030 1.000 3 2000 2015
dbSNP: rs267606980
rs267606980 		1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.030 1.000 3 2017 2020
dbSNP: rs372878791
rs372878791 		1.000 0.120 20 4699783 missense variant C/G;T snv 3.2E-05; 4.0E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.020 1.000 2 2002 2010
dbSNP: rs761807915
rs761807915 		0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.020 1.000 2 2007 2011
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