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 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.900 0.900 50 2006 2019
Exudative age-related macular degeneration
109 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.730 1.000 4 2008 2017
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.700 1.000 1 2017 2017
Macular Degeneration, Age-Related, 7
1 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.700 0
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
1 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.700 0
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.100 0.875 16 2007 2017
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.100 0.900 10 2007 2016
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.040 1.000 4 2007 2012
Drusen
CUI: C1260959
Disease: Drusen
18 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.020 0.500 2 2007 2009
Confluent drusen
CUI: C1720180
Disease: Confluent drusen
1 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2007 2007
Diabetic Retinopathy
CUI: C0011884
Disease: Diabetic Retinopathy
213 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
Intervertebral Disc Degeneration
CUI: C0158266
Disease: Intervertebral Disc Degeneration
47 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
10 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2016 2016
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
11 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2007 2007