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.
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
5 0.679 0.250 4 89828149 missense variant C/T snp 0.800 13 1997 2017
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
19 0.679 0.250 4 89828149 missense variant C/T snp 0.740 1.000 5 1998 2017
Atypical Parkinson Disease
CUI: C1868596
Disease: Atypical Parkinson Disease
4 0.679 0.250 4 89828149 missense variant C/T snp 0.700 3 1997 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
636 0.679 0.250 4 89828149 missense variant C/T snp 0.100 0.930 43 1998 2017
Anxiety
CUI: C0003467
Disease: Anxiety
69 0.679 0.250 4 89828149 missense variant C/T snp 0.050 1.000 5 2010 2016
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
79 0.679 0.250 4 89828149 missense variant C/T snp 0.050 1.000 5 2010 2016
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
18 0.679 0.250 4 89828149 missense variant C/T snp 0.040 1.000 4 1998 2016
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
22 0.679 0.250 4 89828149 missense variant C/T snp 0.030 1.000 3 2001 2002
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
121 0.679 0.250 4 89828149 missense variant C/T snp 0.020 1.000 2 2014 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
6 0.679 0.250 4 89828149 missense variant C/T snp 0.020 1.000 2 2005 2006
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
8 0.679 0.250 4 89828149 missense variant C/T snp 0.020 1.000 2 2014 2016
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
41 0.679 0.250 4 89828149 missense variant C/T snp 0.020 1.000 2 2002 2003
Shy-Drager Syndrome
CUI: C0037019
Disease: Shy-Drager Syndrome
27 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2003 2003
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
120 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 1999 1999
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
9 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2007 2007
Lewy Body Variant of Alzheimer Disease
3 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2000 2000
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
29 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2016 2016
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
68 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2008 2008
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
6 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2016 2016
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
17 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2008 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1062 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1 1998 1998
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
20 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2018 2018
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
17 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2008 2008
Varicosity
CUI: C0042345
Disease: Varicosity
34 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2018 2018
Dystonia
CUI: C0013421
Disease: Dystonia
31 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2016 2016