rs28933385, PRNP

N. diseases: 25
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.900 1.000 44 1990 2019
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.800 0.944 18 1995 2019
Fatal Familial Insomnia
CUI: C0206042
Disease: Fatal Familial Insomnia
16 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.740 1.000 4 2001 2017
HUNTINGTON DISEASE-LIKE 1
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
4 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.700 1.000 22 1989 2016
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.100 1.000 15 1996 2017
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.100 1.000 11 1996 2014
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.050 0.800 5 1999 2019
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.040 1.000 4 2010 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.020 1.000 2 2009 2020
Familial Creutzfeldt-Jakob
CUI: C4275003
Disease: Familial Creutzfeldt-Jakob
1 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.020 1.000 2 2012 2019
Sleep Disorders
CUI: C0851578
Disease: Sleep Disorders
38 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2015
Amnesia
CUI: C0002622
Disease: Amnesia
12 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
Comatose
CUI: C0009421
Disease: Comatose
1 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
Dyssomnias
CUI: C0700201
Disease: Dyssomnias
10 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Gerstmann-Straussler-Scheinker Disease
39 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 1999 1999
Memory Loss
CUI: C0751295
Disease: Memory Loss
10 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Sleeplessness
CUI: C0917801
Disease: Sleeplessness
30 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002