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
551 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.900 0.988 97 2006 2018
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
62 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.770 0.857 8 2009 2016
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
66 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.700 3 2012 2018
Drusen
CUI: C1260959
Disease: Drusen
12 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.040 1.000 4 2009 2015
Exudative age-related macular degeneration
4 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.020 1.000 2 2017 2017
Tumor Angiogenesis
CUI: C1519670
Disease: Tumor Angiogenesis
2 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2015 2015
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
3 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2018 2018
Retinal pigment epithelium atrophy
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
3 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2016 2016
Serous retinal detachment
CUI: C0154822
Disease: Serous retinal detachment
1 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2011 2011
Retinal angiomatous proliferation
CUI: C2609315
Disease: Retinal angiomatous proliferation
3 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2017 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
148 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2015 2015
Retinal Pigment Epithelial Detachment
3 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.010 1.000 1 2011 2011