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.
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.860 1.000 8 2006 2018
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.710 1.000 2 2012 2012
Exudative age-related macular degeneration
109 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.700 1.000 1 2012 2012
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.700 1.000 1 2012 2012
Myeloperoxidase Measurement
CUI: C2698399
Disease: Myeloperoxidase Measurement
16 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.700 1.000 1 2013 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2013 2013
Complete atrioventricular block
CUI: C0151517
Disease: Complete atrioventricular block
96 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2012 2012
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2012 2012
Pneumonia, Ventilator-Associated
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
3 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2009 2009
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2009 2009