rs749036398, CNGA3

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.
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 2 98377691 frameshift variant ACTC/- delins 0.700 0