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: rs140606054
rs140606054
OPA1 ; LOC102724808
1 1.000 0.160 3 193648076 missense variant G/A snv 4.0E-05 6.3E-05 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: rs147077380
rs147077380
OPA1 ; LOC102724808
1 1.000 0.160 3 193648133 missense variant G/A;T snv 3.6E-05; 4.0E-06 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: 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: rs398124298
rs398124298
OPA1 ; LOC102724808
3 0.925 0.160 3 193647110 missense variant C/A;G snv 0.700 0
dbSNP: rs727504060
rs727504060
OPA1
1 1.000 0.160 3 193643419 missense variant T/A;C;G snv 0.700 0
dbSNP: rs754576717
rs754576717
OPA1
1 1.000 0.160 3 193637286 splice region variant G/A snv 4.0E-06 0.700 0
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: 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: rs80356530
rs80356530
OPA1 ; LOC102724808
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs863225274
rs863225274
OPA1
1 1.000 0.160 3 193635467 stop gained T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs863225275
rs863225275
OPA1
1 1.000 0.160 3 193642975 frameshift variant -/TT delins 0.700 1.000 1 2013 2013
dbSNP: rs863225276
rs863225276
OPA1
1 1.000 0.160 3 193643434 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs863225277
rs863225277
OPA1
1 1.000 0.160 3 193643625 missense variant A/G snv 0.700 1.000 1 2013 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: 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: 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: 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