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

rs111033297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a recessive deafness mutation
Make rs111033297(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189413
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033297
ebirs111033297
HLIrs111033297
Exacrs111033297
Varsomers111033297
Maprs111033297
PheGenIrs111033297
hapmaprs111033297
1000 genomesrs111033297
hgdprs111033297
ensemblrs111033297
gopubmedrs111033297
geneviewrs111033297
scholarrs111033297
googlers111033297
pharmgkbrs111033297
gwascentralrs111033297
openSNPrs111033297
23andMers111033297
23andMe allrs111033297
SNP Nexus

SNPshotrs111033297
SNPdbers111033297
MSV3drs111033297
GWAS Ctlgrs111033297
Max Magnitude3
ClinVar
Risk rs111033297(T;T)
Alt rs111033297(T;T)
Reference rs111033297(C;C)
Significance 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.20763552G>A
CLNSRC ClinVar
CLNACC RCV000037815.4, RCV000211761.1,


[PMID 10353784OA-icon.png] Connexin26 deafness in several interconnected families.


[PMID 15070423OA-icon.png] Molecular epidemiology of DFNB1 deafness in France.


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


[PMID 15967879] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.


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