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
CUI: C0030567
Disease: Parkinson Disease
990 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.100 0.926 27 2000 2017
Sporadic Parkinson disease
CUI: C4511452
Disease: Sporadic Parkinson disease
65 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.060 0.833 6 2001 2011
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.030 1.000 3 2002 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1 2006 2006
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2011 2011
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2012 2012
Cataract
CUI: C0086543
Disease: Cataract
124 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1 2011 2011
Degenerative disorder
CUI: C1285162
Disease: Degenerative disorder
6 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2006 2006
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2017 2017
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
27 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2008 2008