Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933385
rs28933385
PRNP
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 		0.040 1.000 4 2010 2019
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.040 1.000 4 1995 2013
dbSNP: rs267606980
rs267606980
PRNP
1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.030 1.000 3 2017 2020
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		0.030 1.000 3 1998 2018
dbSNP: rs74315403
rs74315403
PRNP
0.790 0.200 20 4699752 missense variant G/A snv
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		0.030 1.000 3 1995 2005
dbSNP: rs80356710
rs80356710
PRNP
0.925 0.040 20 4699655 stop gained T/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.730 1.000 3 2011 2019
dbSNP: rs11538758
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.720 1.000 2 1993 1999
dbSNP: rs11538758
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.020 1.000 2 1993 2009
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2009 2020
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.020 1.000 2 2010 2015
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C4275003
Disease: Familial Creutzfeldt-Jakob
Familial Creutzfeldt-Jakob 		0.020 1.000 2 2012 2019
dbSNP: rs372878791
rs372878791
PRNP
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 		0.020 1.000 2 2002 2010
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 1.000 2 2008 2018
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		0.020 1.000 2 1999 2011
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 1.000 2 2010 2012
dbSNP: rs74315403
rs74315403
PRNP
0.790 0.200 20 4699752 missense variant G/A snv
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		0.020 1.000 2 2010 2019
dbSNP: rs74315405
rs74315405
PRNP
0.827 0.160 20 4699813 missense variant T/C snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.720 0.500 2 1996 2016
dbSNP: rs74315406
rs74315406
PRNP
0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 1.000 2 1997 2000
dbSNP: rs74315406
rs74315406
PRNP
0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 1997 2000
dbSNP: rs74315406
rs74315406
PRNP
0.851 0.160 20 4699870 missense variant A/G snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 1.000 2 1997 2000
dbSNP: rs74315411
rs74315411
PRNP
0.882 0.160 20 4699767 missense variant A/G snv
CUI: C1847650
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		0.800 1.000 2 1997 2000
dbSNP: rs74315413
rs74315413
PRNP
0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.720 1.000 2 2000 2010
dbSNP: rs74315414
rs74315414
PRNP
0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.720 1.000 2 2008 2011
dbSNP: rs11538758
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.010 1.000 1 2009 2009
dbSNP: rs11538758
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.010 1.000 1 2013 2013