Source: BEFREE

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 1 2016 2016
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 1 2000 2013
dbSNP: rs398124303
rs398124303
OPA1
0.925 0.160 3 193638064 missense variant A/C;G snv 4.0E-06
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.710 1.000 1 2013 2015
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 1 2015 2015
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 1 2000 2013
dbSNP: rs80356529
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.030 1.000 3 2005 2011
dbSNP: rs80356529
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.030 1.000 3 2003 2011
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 1.000 2 2017 2020
dbSNP: rs10451941
rs10451941
OPA1
0.882 0.160 3 193637313 intron variant T/A;C snv 0.42
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 < 0.001 1 2017 2017
dbSNP: rs10451941
rs10451941
OPA1
0.882 0.160 3 193637313 intron variant T/A;C snv 0.42
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		0.010 1.000 1 2012 2012
dbSNP: rs10451941
rs10451941
OPA1
0.882 0.160 3 193637313 intron variant T/A;C snv 0.42
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 < 0.001 1 2017 2017
dbSNP: rs104893753
rs104893753
OPA1
0.925 0.080 3 193643005 stop gained C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.010 1.000 1 2003 2003
dbSNP: rs1177373525
rs1177373525
OPA1 ; LOC102724808
0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2019 2019
dbSNP: rs1177373525
rs1177373525
OPA1 ; LOC102724808
0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.010 1.000 1 2019 2019
dbSNP: rs121908375
rs121908375
OPA1
0.882 0.160 3 193637280 missense variant G/A snv
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		0.010 1.000 1 2013 2013
dbSNP: rs1230361416
rs1230361416
OPA1
3 193614737 missense variant C/T snv 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.010 1.000 1 2018 2018
dbSNP: rs1231502335
rs1231502335
OPA1
1.000 0.080 3 193643579 missense variant A/G snv 4.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.010 1.000 1 2017 2017
dbSNP: rs1255428605
rs1255428605
OPA1 ; LOC102724808
1.000 0.040 3 193647160 missense variant A/G snv 7.0E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 < 0.001 1 2005 2005
dbSNP: rs1374279494
rs1374279494
OPA1
0.925 0.160 3 193635422 missense variant A/T snv 4.0E-06
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 1.000 1 2012 2012
dbSNP: rs1374279494
rs1374279494
OPA1
0.925 0.160 3 193635422 missense variant A/T snv 4.0E-06
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		0.010 1.000 1 2012 2012
dbSNP: rs138350727
rs138350727
OPA1 ; OPA1-AS1
1.000 0.080 3 193626153 missense variant G/A;T snv 3.2E-05; 4.0E-06
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.010 1.000 1 2008 2008
dbSNP: rs138350727
rs138350727
OPA1 ; OPA1-AS1
1.000 0.080 3 193626153 missense variant G/A;T snv 3.2E-05; 4.0E-06
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.010 1.000 1 2008 2008
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2019 2019
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 1.000 1 2020 2020
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 1.000 1 2016 2016