{{Rsnum
|rsid=7624750
|Gene=OPA1
|Chromosome=3
|position=193617202
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4573
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=OPA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 23.0 | 46.9 | 30.1
| HCB | 15.3 | 43.1 | 41.6
| JPT | 10.7 | 47.3 | 42.0
| YRI | 41.1 | 45.9 | 13.0
| ASW | 36.8 | 40.4 | 22.8
| CHB | 15.3 | 43.1 | 41.6
| CHD | 14.8 | 43.5 | 41.7
| GIH | 21.0 | 51.0 | 28.0
| LWK | 35.5 | 49.1 | 15.5
| MEX | 22.4 | 51.7 | 25.9
| MKK | 33.3 | 46.2 | 20.5
| TSI | 17.6 | 49.0 | 33.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=7624750
|allele=A
|frequency=0.417
|uid=1103656334585
|type=heterozygous_SNP
|hugo=OPA1
|ensembl gene=ENSG00000198836
|ensembl transcript=ENST00000361828
|sift=TOLERATED
|disease=Defects in OPA1 are a cause of optic atrophy type 1 (OPA1) (MIM:165500). OPA1 is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to legal blindness.
}}

{{GET Evidence
|gene=OPA1
|aa_change=Ser158Asn
|aa_change_short=S158N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7624750
|overall_frequency_n=5338
|overall_frequency_d=10754
|overall_frequency=0.496373
|n_genomes=39
|n_genomes_annotated=0
|n_haplomes=55
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.002
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=4
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}