rs104893620, CNGA3

N. diseases: 6
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 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.800 1.000 8 1998 2015
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
63 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.710 1.000 1 2011 2011
Abnormal color vision
CUI: C0234629
Disease: Abnormal color vision
5 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.700 0
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.700 0
Photophobia
CUI: C0085636
Disease: Photophobia
7 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.700 0
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
14 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.010 1.000 1 2011 2011