{{Rsnum
|rsid=111033217
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=GJB2
|position=20189538
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033217
|Reversed=1
|FwdREF=A
|FwdALT=C
|REF=T
|ALT=G
|RSPOS=20763677
|CHROM=13
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763677T>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000037855.1
|CLNDBN=Hereditary hearing loss and deafness
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1434:C0236038:95827002
|Disease=Hereditary hearing loss and deafness
}}{{PMID Auto
|PMID=12172394
|Title=Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
}}

{{PMID Auto
|PMID=12925341
|Title=Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
}}