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: rs80356525
rs80356525
OPA3
3 0.882 0.200 19 45553741 stop gained G/A;C snv 0.800 1.000 3 2004 2015
dbSNP: rs80356524
rs80356524
OPA3
3 0.882 0.200 19 45553777 missense variant C/T snv 0.800 1.000 1 2004 2004
dbSNP: rs80356523
rs80356523
OPA3
2 0.925 0.200 19 45553912 splice acceptor variant C/G snv 0.700 1.000 3 2001 2015
dbSNP: rs886037828
rs886037828
OPA3
1 1.000 0.120 19 45553819 missense variant G/C snv 0.700 0