rs776896038, CNGB3

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 3
CUI: C1849792
Disease: Achromatopsia 3
106 1.000 0.120 8 86632787 frameshift variant A/-;AA delins 4.0E-06 0.700 1.000 1 2017 2017
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 1.000 0.120 8 86632787 frameshift variant A/-;AA delins 4.0E-06 0.700 0