{{Rsnum
|rsid=143319805
|Gene=OPA1
|Chromosome=3
|position=193643378
|Orientation=plus
|GMAF=0.0004591
|Gene_s=OPA1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=G
|CAF=0.9995; 0.0004591
|CHROM=3
|CLNACC=RCV000043607.1; RCV000043608.1; RCV000081747.1
|CLNALLE=1
|CLNDBN=Dominant hereditary optic atrophy; Optic Atrophy Type 1; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1248:C0338508:165500:98673:2065009; NBK1248:C1852267:125250:3212
|CLNHGVS=NC_000003.11:g.193361167A>G
|CLNSIG=5
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=3960; 605290.0018
|COMMON=0
|Disease=Dominant hereditary optic atrophy; Optic Atrophy Type 1; not provided
|FwdALT=G
|FwdREF=A
|GENEINFO=OPA1:4976
|GENE_ID=4976
|GENE_NAME=OPA1
|REF=A
|RSPOS=193361167
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000040016110100
|WGT=0
|dbSNPBuildID=134
|rsid=143319805
}}