rs552069173, 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.
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
43 1.000 0.120 2 98396858 missense variant G/A snv 7.6E-05 3.5E-05 0.700 1.000 8 1998 2015
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 1.000 0.120 2 98396858 missense variant G/A snv 7.6E-05 3.5E-05 0.700 1.000 1 2001 2001