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: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.900 1.000 14 1996 2015
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.860 1.000 7 2008 2015
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 0.833 6 2004 2016
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		0.030 1.000 3 2002 2011
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.030 1.000 3 2006 2013
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		0.030 1.000 3 2006 2014
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2006 2008
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		0.020 1.000 2 1993 2003
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.020 1.000 2 2006 2018
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		0.020 1.000 2 2008 2015
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.020 0.500 2 2007 2008
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 < 0.001 1 2010 2010
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 < 0.001 1 2010 2010
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2019 2019
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2014 2014
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.010 1.000 1 2007 2007
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2003 2003
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.010 1.000 1 2013 2013
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 < 0.001 1 2016 2016
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		0.010 1.000 1 2007 2007
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2010 2010
dbSNP: rs6107516
rs6107516
PRNP
1.000 0.120 20 4696446 intron variant G/A snv 0.23
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.700 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516
PRNP
1.000 0.120 20 4696446 intron variant G/A snv 0.23
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.800 1.000 1 2012 2012