{{Rsnum
|rsid=104894412
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=GJB2
|position=20189420
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=104894412
|variant=0030
}}{{ClinVar
|rsid=104894412
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=20763559
|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.20763559G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=121011.0030
|CLNSIG=5
|CLNCUI=C0266004
|CLNDBN=Knuckle pads, deafness AND leukonychia syndrome
|Disease=Knuckle pads
|CLNACC=RCV000018558.26
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0266004:149200:1271009
}}