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 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.900 0.979 97 2006 2019
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 0.923 26 2007 2019
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.800 1.000 14 2008 2016
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 1.000 14 2007 2018
Exudative age-related macular degeneration
109 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.800 1.000 13 2010 2017
Drusen
CUI: C1260959
Disease: Drusen
18 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.050 1.000 5 2009 2018
Retinal angiomatous proliferation
CUI: C2609315
Disease: Retinal angiomatous proliferation
4 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.050 1.000 5 2010 2017
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
10 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.040 1.000 4 2013 2019
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.700 1.000 3 2012 2017
Blindness
CUI: C0456909
Disease: Blindness
34 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2017 2018
Choroidal vascular hyperpermeability
3 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2014 2016
Retinal Pigment Epithelial Detachment
3 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2011 2017
Retinal pigment epithelium atrophy
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
2 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2016 2017
Central Serous Chorioretinopathy
CUI: C0730328
Disease: Central Serous Chorioretinopathy
10 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.010 1.000 1 2016 2016
Diabetic Retinopathy
CUI: C0011884
Disease: Diabetic Retinopathy
213 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.010 1.000 1 2010 2010
Serous retinal detachment
CUI: C0154822
Disease: Serous retinal detachment
2 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.010 1.000 1 2011 2011