rs147415641, CNGA3

N. diseases: 3
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 0.882 0.120 2 98395852 missense variant G/A snv 1.4E-03 8.6E-04 0.710 1.000 2 2008 2010
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
43 0.882 0.120 2 98395852 missense variant G/A snv 1.4E-03 8.6E-04 0.700 0
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
14 0.882 0.120 2 98395852 missense variant G/A snv 1.4E-03 8.6E-04 0.010 1.000 1 2008 2008