rs74315401, PRNP

N. diseases: 32
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.
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.683 0.320 20 4699525 missense variant C/T snv 0.900 0.979 47 1989 2019
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
Dementia
CUI: C0497327
Disease: Dementia
176 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.683 0.320 20 4699525 missense variant C/T snv 0.040 1.000 4 1995 2013
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.683 0.320 20 4699525 missense variant C/T snv 0.030 1.000 3 1998 2018
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.683 0.320 20 4699525 missense variant C/T snv 0.020 1.000 2 2008 2018
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.683 0.320 20 4699525 missense variant C/T snv 0.020 1.000 2 2010 2012
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.683 0.320 20 4699525 missense variant C/T snv 0.020 1.000 2 1999 2011
Apathy
CUI: C0085632
Disease: Apathy
9 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008
Ataxias, Hereditary
CUI: C0004138
Disease: Ataxias, Hereditary
3 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2018 2018
Ataxic
CUI: C0234366
Disease: Ataxic
4 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008
Cerebellar Diseases
CUI: C0007760
Disease: Cerebellar Diseases
4 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2018 2018
Cerebellar signs
CUI: C0742038
Disease: Cerebellar signs
5 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
Depressed mood
CUI: C0344315
Disease: Depressed mood
269 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
Executive dysfunction
CUI: C2748208
Disease: Executive dysfunction
3 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2012 2012
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2003 2003
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008
Mental Depression
CUI: C0011570
Disease: Mental Depression
271 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 1996 1996
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2018 2018
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 1998 1998
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 1996 1996