Have questions? Visit https://www.reddit.com/r/SNPedia

rs111033296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a recessive deafness mutation
Make rs111033296(A;A)
Make rs111033296(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189463
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033296
ebirs111033296
HLIrs111033296
Exacrs111033296
Varsomers111033296
Maprs111033296
PheGenIrs111033296
hapmaprs111033296
1000 genomesrs111033296
hgdprs111033296
ensemblrs111033296
gopubmedrs111033296
geneviewrs111033296
scholarrs111033296
googlers111033296
pharmgkbrs111033296
gwascentralrs111033296
openSNPrs111033296
23andMers111033296
23andMe allrs111033296
SNP Nexus

SNPshotrs111033296
SNPdbers111033296
MSV3drs111033296
GWAS Ctlgrs111033296
Max Magnitude3
ClinVar
Risk rs111033296(A,G;A,G)
Alt rs111033296(A,G;A,G)
Reference rs111033296(C;C)
Significance Probable-Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763602G>C; NC_000013.10:g.20763602G>T
CLNSRC ClinVar
CLNACC RCV000169292.1, RCV000037813.2,


[PMID 15150777] Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.


[PMID 16380907OA-icon.png] GJB2 mutations and degree of hearing loss: a multicenter study.


[PMID 19371219] Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.