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: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006
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: rs74315205
rs74315205
WFS1 ; LOC107986257
7 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2006 2006
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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.710 1.000 21 2000 2013
dbSNP: rs121908375
rs121908375
OPA1
3 0.882 0.160 3 193637280 missense variant G/A snv 0.710 1.000 21 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: rs10451941
rs10451941
OPA1
3 0.882 0.160 3 193637313 intron variant T/A;C snv 0.42 0.010 < 0.001 1 2017 2017
dbSNP: rs80356525
rs80356525
OPA3
3 0.882 0.200 19 45553741 stop gained G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs80356530
rs80356530
OPA1 ; LOC102724808
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2001 2001
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: rs28939082
rs28939082
OPA1
2 0.925 0.160 3 193637980 missense variant G/A snv 0.700 1.000 20 2000 2013
dbSNP: rs387906900
rs387906900
OPA1
2 0.925 0.160 3 193643978 missense variant G/T 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: 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: 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: 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: rs166850
rs166850
OPA1
2 0.925 0.160 3 193637285 splice region variant T/A;C snv 0.87 0.010 < 0.001 1 2017 2017
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: 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: 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
dbSNP: rs765118029
rs765118029
OPA1
2 0.925 0.160 3 193635443 missense variant G/A snv 2.0E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs765208285
rs765208285
OPA1 ; LOC102724808
3 0.925 0.160 3 193662945 missense variant G/A snv 1.6E-05 0.010 1.000 1 2006 2006
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: rs866025924
rs866025924
OPA1
2 0.925 0.160 3 193614803 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019