{{Rsnum
|rsid=397514463
|Chromosome=14
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=OTX2
|position=56802043
|Gene_s=OTX2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=14
|CLNACC=RCV000022927.1
|CLNALLE=1
|CLNDBN=Microphthalmia syndromic 5
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864690:610125:178364
|CLNHGVS=NC_000014.8:g.57268761C>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600037.0010
|Disease=Microphthalmia syndromic 5
|FwdALT=T
|FwdREF=G
|GENEINFO=OTX2:5015
|GENE_ID=5015
|GENE_NAME=OTX2
|REF=C
|RSPOS=57268761
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514463
}}