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rs104894408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 6 Deafness and keratitis; possible dominant or recessive
(C;G) 6 Deafness and keratitis; possible dominant or recessive
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position20189548
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894408
ebirs104894408
HLIrs104894408
Exacrs104894408
Varsomers104894408
Maprs104894408
PheGenIrs104894408
hapmaprs104894408
1000 genomesrs104894408
hgdprs104894408
ensemblrs104894408
gopubmedrs104894408
geneviewrs104894408
scholarrs104894408
googlers104894408
pharmgkbrs104894408
gwascentralrs104894408
openSNPrs104894408
23andMers104894408
23andMe allrs104894408
SNP Nexus

SNPshotrs104894408
SNPdbers104894408
MSV3drs104894408
GWAS Ctlgrs104894408
GMAF0.0009183
Max Magnitude6

This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.

OMIM121011
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104894408(C,T;C,T)
Alt rs104894408(C,T;C,T)
Reference rs104894408(G;G)
Significance Pathogenic
Disease Non-syndromic genetic deafness not provided Hearing impairment Keratitis-ichthyosis-deafness syndrome
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness not provided Hearing impairment Keratitis-ichthyosis-deafness syndrome, autosomal dominant
Reversed 1
HGVS NC_000013.10:g.20763687C>A; NC_000013.10:g.20763687C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000037839.3, RCV000080371.4, RCV000146017.1, RCV000018548.30,


[PMID 15365987] GJB2: the spectrum of deafness-causing allele variants and their phenotype.


[PMID 17041943OA-icon.png] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.


[PMID 17666888] A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.