rs104893613, 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 0.925 0.120 2 98396017 missense variant C/T snv 9.9E-05 2.1E-05 0.800 1.000 8 1998 2015
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
63 0.925 0.120 2 98396017 missense variant C/T snv 9.9E-05 2.1E-05 0.700 0