{{Rsnum
|rsid=104894403
|Chromosome=13
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GJB2
|position=20189386
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=104894403
|variant=0012
}}{{ClinVar
|rsid=104894403
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=20763525
|CHROM=13
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763525C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=121011.0012
|CLNSIG=5
|CLNCUI=C0265964
|CLNDBN=Mutilating keratoderma
|Disease=Mutilating keratoderma
|CLNACC=RCV000018536.27
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0265964:124500:494:24559001
}}