rs641153, CFB;CYP21A2

N. diseases: 7
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 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.900 0.947 19 2007 2019
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.710 1.000 2 2012 2019
Exudative age-related macular degeneration
CUI: C0271084
Disease: Exudative age-related macular degeneration
109 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.700 1.000 1 2012 2012
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.700 1.000 1 2012 2012
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.020 1.000 2 2009 2012
Drusen
CUI: C1260959
Disease: Drusen
18 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.010 1.000 1 2014 2014
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.010 1.000 1 2009 2009