{{Rsnum
|rsid=199474822
|Gene=COX1
|Chromosome=MT
|position=7444
|Orientation=plus
|GMAF=0.002806
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MT-ATP6
}}{{ClinVar
|ALT=A
|CAF=0.9972; 0.002806
|CHROM=MT
|CLNACC=RCV000010299.3; RCV000010300.1; RCV000010301.1
|CLNALLE=1
|CLNDBN=Leber's optic atrophy; Aminoglycoside-induced deafness; Deafness, nonsyndromic sensorineural, mitochondrial
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1174:NBK1224:C0917796:535000:104:58610003; NBK1422:NBK1434:C1838854:580000:168609; NBK1422:NBK1434:C3151897:500008:90641
|CLNHGVS=NC_012920.1:m.7444G>A
|CLNSIG=5
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000500593; 516030.0001; 590080.0006
|COMMON=0
|Disease=Leber's optic atrophy; Aminoglycoside-induced deafness; Deafness
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=7444
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=199474822
}}