rs863225275, OPA1

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.
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 1.000 0.160 3 193642975 frameshift variant -/TT delins 0.700 1.000 1 2013 2013