rs1194219748, 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
CUI: C0152200
Disease: Achromatopsia
63 0.925 0.120 2 98370010 missense variant C/G snv 8.0E-06 0.010 1.000 1 2012 2012
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
14 0.925 0.120 2 98370010 missense variant C/G snv 8.0E-06 0.010 1.000 1 2012 2012