rs1799990, PRNP

N. diseases: 23
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 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.900 1.000 14 1996 2015
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.860 1.000 7 2008 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.060 0.833 6 2004 2016
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.030 1.000 3 2006 2014
New Variant Creutzfeldt-Jakob Disease
2 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.030 1.000 3 2006 2013
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.030 1.000 3 2002 2011
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
33 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 0.500 2 2007 2008
Fatal Familial Insomnia
CUI: C0206042
Disease: Fatal Familial Insomnia
16 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 1993 2003
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
349 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 2006 2018
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
18 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 2008 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 2006 2008
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2003 2003
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2019 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2010 2010
Dementia, Vascular
CUI: C0011269
Disease: Dementia, Vascular
32 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2007 2007
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1 2016 2016
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2014 2014
Malignant neoplasm of colon and/or rectum
502 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2010 2010
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
264 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2013 2013
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1 2010 2010
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1 2010 2010
Psychotic Disorders
CUI: C0033975
Disease: Psychotic Disorders
179 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2007 2007
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1 2010 2010