Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1020764190
rs1020764190
AFG3L2
A 0.700 CausalMutation CLINVAR

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: rs397514477
rs397514477
C19orf12
0.010 GeneticVariation BEFREE We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes. 30088953

2018
dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

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: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs1555303073
rs1555303073
COL4A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR

dbSNP: rs672601363
rs672601363
KIF1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs672601366
rs672601366
KIF1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs672601367
rs672601367
KIF1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs672601369
rs672601369
KIF1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs672601370
rs672601370
KIF1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs672601371
rs672601371
KIF1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519286
rs1057519286
MECR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519287
rs1057519287
MECR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs145192716
rs145192716
MECR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs756421370
rs756421370
MECR
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs759218713
rs759218713
MECR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs762913101
rs762913101
MECR
T 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: rs780533096
rs780533096
MIPEP
T 0.700 GeneticVariation CLINVAR

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