rs74315407, PRNP

N. diseases: 15
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 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.870 1.000 18 1990 2016
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.720 1.000 2 2011 2015
HUNTINGTON DISEASE-LIKE 1
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
4 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.020 1.000 2 2013 2016
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 1999 1999
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2008 2008
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 1999 1999
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
16 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2019 2019
Dementia
CUI: C0497327
Disease: Dementia
176 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2016 2016
Fatal Familial Insomnia
CUI: C0206042
Disease: Fatal Familial Insomnia
16 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 1999 1999
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2016 2016
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001
Visual Manifestations
CUI: C1336970
Disease: Visual Manifestations
1 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2016 2016