rs641153, CFB;CYP21A2

N. diseases: 5
Source: BEFREE ×
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
390 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.900 0.947 16 2007 2019
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
32 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.710 1.000 1 2012 2019
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
80 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
17 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