rs200707391, CC2D2A

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 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05 0.010 1.000 1 2019 2019
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
14 0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05 0.010 1.000 1 2019 2019
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05 0.010 1.000 1 2019 2019