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: rs74315405
rs74315405
PRNP
0.827 0.160 20 4699813 missense variant T/C snv
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.010 1.000 1 1998 1998
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: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 1.000 1 1999 1999
dbSNP: rs74315407
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 1999 1999
dbSNP: rs74315407
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 1999 1999
dbSNP: rs74315407
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 1999 1999
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: rs1800014
rs1800014
PRNP
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2000 2000
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 1.000 1 2000 2000
dbSNP: rs398122370
rs398122370
PRNP
0.925 0.160 20 4699851 missense variant G/C snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 1.000 1 2000 2000
dbSNP: rs398122370
rs398122370
PRNP
0.925 0.160 20 4699851 missense variant G/C snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.010 1.000 1 2000 2000
dbSNP: rs398122370
rs398122370
PRNP
0.925 0.160 20 4699851 missense variant G/C snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2000 2000
dbSNP: rs62643364
rs62643364
PRNP
0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2000 2000
dbSNP: rs74315413
rs74315413
PRNP
0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 1.000 1 2000 2000
dbSNP: rs776593792
rs776593792
PRNP
1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.010 1.000 1 2000 2000
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2001 2001
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2001 2001
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2001 2001
dbSNP: rs74315407
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		0.010 1.000 1 2001 2001
dbSNP: rs74315407
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		0.010 1.000 1 2001 2001
dbSNP: rs74315407
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		0.010 1.000 1 2001 2001
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		0.010 1.000 1 2002 2002