{{Rsnum
|rsid=104893808
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SOX2
|position=181712931
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SOX2,SOX2-OT
}}{{omim
|id=184429
|rsnum=104893808
|variant=0013
}}{{ClinVar
|rsid=104893808
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=181430719
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|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.181430719G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;OTHERKG;LSD;OM
|CLNACC=RCV000013674.22
|CLNDBN=Optic nerve hypoplasia and abnormalities of the central nervous system
|CLNDSDB=MedGen
|CLNDSDBID=C1859774
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=184429.0013
|Disease=Optic nerve hypoplasia and abnormalities of the central nervous system
}}