Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879255592
rs879255592
OPA1 ; LOC102724808
2 0.925 0.160 3 193647127 missense variant G/A snv 0.700 1.000 20 2000 2013