Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.810 1.000 0 2016 2016
dbSNP: rs121908376
rs121908376
OPA1 ; LOC102724808
1.000 3 193648109 missense variant A/G snv
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.800 1.000 8 2004 2013
dbSNP: rs387906900
rs387906900
OPA1
0.925 0.160 3 193643978 missense variant G/T snv
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.800 1.000 8 2004 2013
dbSNP: rs387906901
rs387906901
OPA1 ; LOC102724808
1.000 3 193667191 missense variant T/A snv
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.800 1.000 8 2004 2013
dbSNP: rs80356529
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.800 1.000 8 2004 2013
dbSNP: rs879255592
rs879255592
OPA1 ; LOC102724808
0.925 0.160 3 193647127 missense variant G/A snv
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.800 1.000 8 2004 2013
dbSNP: rs879255594
rs879255594
OPA1
1.000 0.240 3 193643436 missense variant G/A snv
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.800 1.000 3 2011 2015
dbSNP: rs398124298
rs398124298
OPA1 ; LOC102724808
0.925 0.160 3 193647110 missense variant C/A;G snv
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.800 0
dbSNP: rs121908375
rs121908375
OPA1
0.882 0.160 3 193637280 missense variant G/A snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.710 1.000 20 2000 2013
dbSNP: rs80356529
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.710 1.000 20 2000 2013
dbSNP: rs770966290
rs770966290
OPA1
0.925 0.160 3 193638010 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.710 1.000 0 2015 2015
dbSNP: rs1064797302
rs1064797302
OPA1 ; LOC102724808
1.000 0.160 3 193659560 missense variant A/G snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs1292852465
rs1292852465
OPA1 ; LOC102724808
1.000 0.160 3 193658904 missense variant T/G snv 4.0E-06
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs145710079
rs145710079
OPA1 ; LOC102724808
1.000 0.160 3 193667256 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs151103940
rs151103940
OPA1
0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs28939082
rs28939082
OPA1
0.925 0.160 3 193637980 missense variant G/A snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs387906900
rs387906900
OPA1
0.925 0.160 3 193643978 missense variant G/T snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs530896300
rs530896300
OPA1
1.000 0.160 3 193614995 missense variant A/G;T snv 2.0E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs778998909
rs778998909
OPA1 ; LOC102724808
1.000 0.160 3 193648132 missense variant C/T snv 1.2E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs780922750
rs780922750
OPA1
1.000 0.160 3 193643038 missense variant G/A;T snv 1.6E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs879255592
rs879255592
OPA1 ; LOC102724808
0.925 0.160 3 193647127 missense variant G/A snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 1.000 20 2000 2013
dbSNP: rs140606054
rs140606054
OPA1 ; LOC102724808
1.000 0.160 3 193648076 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 0
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 0
dbSNP: rs147077380
rs147077380
OPA1 ; LOC102724808
1.000 0.160 3 193648133 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 0
dbSNP: rs190223702
rs190223702
OPA1
0.925 0.160 3 193642978 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.700 0