Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1020764190
rs1020764190
AFG3L2
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893753
rs104893753
OPA1
0.010 GeneticVariation BEFREE The mutations (Glu347Stop and Arg366Stop) of the OPA1 gene are involved in the pathogenesis of bilateral optic atrophy in Japanese patients. 12842213

2003
dbSNP: rs104894270
rs104894270
NDUFS3
0.010 GeneticVariation BEFREE The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency. 24028823

2013
dbSNP: rs1057517686
rs1057517686
ATAD3A
T 0.700 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307

2016
dbSNP: rs1057518927
rs1057518927
OAT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519286
rs1057519286
MECR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519287
rs1057519287
MECR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1177373525
rs1177373525
OPA1 ; LOC102724808
0.010 GeneticVariation BEFREE The novel homozygous p.M797I POLG mutation is responsible for MNGIE combined to optic atrophy and mtDNA depletion in the two patients. 30395865

2019
dbSNP: rs1184021143
rs1184021143
SLC25A46
A 0.700 GeneticVariation CLINVAR

dbSNP: rs119103265
rs119103265
MFN2
0.020 GeneticVariation BEFREE We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy. 16835246

2006
dbSNP: rs119103265
rs119103265
MFN2
0.020 GeneticVariation BEFREE The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. 21707411

2011
dbSNP: rs1231502335
rs1231502335
OPA1
0.010 GeneticVariation BEFREE We also identified a novel mutation causing optic atrophy and deafness (c.892A>G (p.Ser298Gly)). 27858935

2017
dbSNP: rs139194636
rs139194636
WARS2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs145192716
rs145192716
MECR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs151103940
rs151103940
OPA1
0.010 GeneticVariation BEFREE An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs. 21036400

2011
dbSNP: rs1555303073
rs1555303073
COL4A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

dbSNP: rs201754030
rs201754030
TSFM
0.010 GeneticVariation BEFREE The same p.Q286X variant was found as compound heterozygous with a splice site change in a patient from a second family, with juvenile-onset optic atrophy, peripheral neuropathy, and ataxia. 25037205

2014
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
0.010 GeneticVariation BEFREE Both NPG loci were also nominally associated with a second type of glaucoma, exfoliation syndrome glaucoma (rs2157719 [G], OR = 0.59 [95% CI 0.41-0.87], p = 0.004 and rs284489 [G], OR = 0.76 [95% CI 0.54-1.06], p = 0.021), suggesting that these loci might contribute more generally to optic nerve degeneration in glaucoma. 22570617

2012
dbSNP: rs284489
rs284489
ZFPM2
0.010 GeneticVariation BEFREE Both NPG loci were also nominally associated with a second type of glaucoma, exfoliation syndrome glaucoma (rs2157719 [G], OR = 0.59 [95% CI 0.41-0.87], p = 0.004 and rs284489 [G], OR = 0.76 [95% CI 0.54-1.06], p = 0.021), suggesting that these loci might contribute more generally to optic nerve degeneration in glaucoma. 22570617

2012
dbSNP: rs28939714
rs28939714
NDUFS3
0.010 GeneticVariation BEFREE The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency. 24028823

2013
dbSNP: rs34757931
rs34757931
VPS11
G 0.700 CausalMutation CLINVAR

dbSNP: rs374997012
rs374997012
TWNK ; MRPL43
T 0.700 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016