rs1057516571, CNGB3

N. diseases: 1
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 86579126 frameshift variant C/- delins 0.700 0