rs117522010, CNGA3

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.
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.925 0.120 2 98396575 missense variant G/A;T snv 1.6E-05 0.700 1.000 1 2008 2008
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
43 0.925 0.120 2 98396575 missense variant G/A;T snv 1.6E-05 0.700 0