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: rs863225275
rs863225275
OPA1
1 1.000 0.160 3 193642975 frameshift variant -/TT delins 0.700 1.000 1 2013 2013
dbSNP: rs398124303
rs398124303
OPA1
2 0.925 0.160 3 193638064 missense variant A/C;G snv 4.0E-06 0.710 1.000 2 2013 2015
dbSNP: rs1064797302
rs1064797302
OPA1 ; LOC102724808
1 1.000 0.160 3 193659560 missense variant A/G snv 0.700 1.000 20 2000 2013
dbSNP: rs151103940
rs151103940
OPA1
3 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.700 1.000 20 2000 2013
dbSNP: rs770966290
rs770966290
OPA1
2 0.925 0.160 3 193638010 missense variant A/G snv 1.6E-05 4.2E-05 0.710 1.000 1 2015 2015
dbSNP: rs863225277
rs863225277
OPA1
1 1.000 0.160 3 193643625 missense variant A/G snv 0.700 1.000 1 2013 2013
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: rs530896300
rs530896300
OPA1
1 1.000 0.160 3 193614995 missense variant A/G;T snv 2.0E-05 0.700 1.000 20 2000 2013
dbSNP: rs1374279494
rs1374279494
OPA1
2 0.925 0.160 3 193635422 missense variant A/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs398124298
rs398124298
OPA1 ; LOC102724808
3 0.925 0.160 3 193647110 missense variant C/A;G snv 0.700 0
dbSNP: rs387906930
rs387906930
WFS1
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs414237
rs414237
OPA1 ; LOC102724808
2 0.925 0.200 3 193668749 3 prime UTR variant C/G;T snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs190235251
rs190235251
OPA1 ; LOC102724808
1 1.000 0.160 3 193659547 missense variant C/G;T snv 8.1E-06; 1.8E-04 0.700 0
dbSNP: rs201214736
rs201214736
OPA1
1 1.000 0.160 3 193614974 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.700 0
dbSNP: rs145710079
rs145710079
OPA1 ; LOC102724808
1 1.000 0.160 3 193667256 missense variant C/T snv 1.6E-05 2.1E-05 0.700 1.000 20 2000 2013
dbSNP: rs778998909
rs778998909
OPA1 ; LOC102724808
1 1.000 0.160 3 193648132 missense variant C/T snv 1.2E-05 0.700 1.000 20 2000 2013
dbSNP: rs9838374
rs9838374
OPA1
3 0.882 0.240 3 193598916 intron variant C/T snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs780333963
rs780333963
OPA1
2 1.000 0.160 3 193637279 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs863224906
rs863224906
OPA1 ; LOC102724808
1 1.000 0.160 3 193657197 stop gained C/T snv 0.700 0
dbSNP: rs121908375
rs121908375
OPA1
3 0.882 0.160 3 193637280 missense variant G/A snv 0.710 1.000 21 2000 2013
dbSNP: rs28939082
rs28939082
OPA1
2 0.925 0.160 3 193637980 missense variant G/A snv 0.700 1.000 20 2000 2013
dbSNP: rs879255592
rs879255592
OPA1 ; LOC102724808
2 0.925 0.160 3 193647127 missense variant G/A snv 0.700 1.000 20 2000 2013
dbSNP: rs145413511
rs145413511
MFN2
2 0.925 0.160 1 12007062 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs376321869
rs376321869
OPA1 ; LOC102724808
2 0.925 0.160 3 193658971 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs541206547
rs541206547
OPA1 ; OPA1-AS1
2 0.925 0.160 3 193618905 missense variant G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019