{{Rsnum
|rsid=28931594
|Gene=GJB2
|Chromosome=13
|position=20189434
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=T
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}[[deafness]]
{{omim
|desc=KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
|id=121011
|rsnum=28931594
|variant=0027
}}
{{ neighbor
| rsid = 28931593
| distance = 76
}}
{{ neighbor
| rsid = 28929485
| distance = 98
}}

{{omim
|id=121011
|rsnum=28931594
|variant=0020
}}

{{ClinVar
|rsid=28931594
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=20763573
|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; 2
|CLNHGVS=NC_000013.10:g.20763573C>A; NC_000013.10:g.20763573C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=121011.0027; 121011.0020
|CLNSIG=5
|CLNCUI=C1835678
|CLNDBN=Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Hystrix-like ichthyosis with deafness
|Disease=Keratitis-ichthyosis-deafness syndrome; Hystrix-like ichthyosis with deafness
|CLNACC=RCV000018556.22; RCV000018546.27; RCV000018547.27
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1835678:148210:477
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}