{{Rsnum
|rsid=104893804
|Chromosome=3
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SOX2
|position=181712523
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SOX2,SOX2-OT
}}{{omim
|id=184429
|rsnum=104893804
|variant=0007
}}{{ClinVar
|rsid=104893804
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=181430311
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SOX2-OT:347689; SOX2:6657
|GENE_NAME=SOX2-OT; SOX2
|GENE_ID=347689; 6657
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.181430311C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=184429.0007
|CLNSIG=5
|CLNCUI=C1859773
|CLNDBN=Microphthalmia syndromic 3
|Disease=Microphthalmia syndromic 3
|CLNACC=RCV000013668.20
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1300:NBK1378:C1859773:206900:77298
}}