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: rs121908376
rs121908376
OPA1 ; LOC102724808
1 1.000 3 193648109 missense variant A/G snv 0.800 1.000 8 2004 2013
dbSNP: rs387906900
rs387906900
OPA1
2 0.925 0.160 3 193643978 missense variant G/T snv 0.800 1.000 8 2004 2013
dbSNP: rs387906901
rs387906901
OPA1 ; LOC102724808
1 1.000 3 193667191 missense variant T/A snv 0.800 1.000 8 2004 2013
dbSNP: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.800 1.000 8 2004 2013
dbSNP: rs879255592
rs879255592
OPA1 ; LOC102724808
2 0.925 0.160 3 193647127 missense variant G/A snv 0.800 1.000 8 2004 2013
dbSNP: rs398124298
rs398124298
OPA1 ; LOC102724808
3 0.925 0.160 3 193647110 missense variant C/A;G snv 0.800 0
dbSNP: rs794729196
rs794729196
OPA1
1 1.000 3 193644008 frameshift variant C/- del 0.700 1.000 1 2011 2011
dbSNP: rs104893753
rs104893753
OPA1
2 0.925 0.080 3 193643005 stop gained C/T snv 0.700 0
dbSNP: rs121908375
rs121908375
OPA1
3 0.882 0.160 3 193637280 missense variant G/A snv 0.700 0
dbSNP: rs143319805
rs143319805
OPA1
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.700 0
dbSNP: rs190223702
rs190223702
OPA1
2 0.925 0.160 3 193642978 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs28939082
rs28939082
OPA1
2 0.925 0.160 3 193637980 missense variant G/A snv 0.700 0
dbSNP: rs387906899
rs387906899
OPA1
2 1.000 3 193643609 missense variant A/G snv 0.700 0
dbSNP: rs80356528
rs80356528
OPA1
1 1.000 3 193642846 splice donor variant G/T snv 0.700 0
dbSNP: rs80356530
rs80356530
OPA1 ; LOC102724808
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 0
dbSNP: rs80356531
rs80356531
OPA1
1 1.000 3 193692069 frameshift variant T/- delins 0.700 0
dbSNP: rs879255510
rs879255510
OPA1
1 1.000 3 193642764 splice acceptor variant G/A snv 0.700 0
dbSNP: rs879255511
rs879255511
OPA1
1 1.000 3 193643608 inframe deletion CAT/- delins 0.700 0
dbSNP: rs879255512
rs879255512
OPA1
1 1.000 3 193644015 frameshift variant G/- delins 0.700 0
dbSNP: rs879255513
rs879255513
OPA1
1 1.000 3 193692092 frameshift variant GA/- del 0.700 0
dbSNP: rs879255560
rs879255560
OPA1
1 1.000 3 193692067 frameshift variant TTAG/- delins 0.700 0
dbSNP: rs9276977
rs9276977
HLA-DOA
2 0.925 0.120 6 33006064 3 prime UTR variant G/A snv 0.22 0.010 1.000 1 2010 2010