rs138195505, C2;CYP21A2

N. diseases: 2
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 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.020 1.000 2 2007 2012
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2012 2012