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rs111033294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a recessive deafness mutation
Make rs111033294(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20188965
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033294
ebirs111033294
HLIrs111033294
Exacrs111033294
Varsomers111033294
Maprs111033294
PheGenIrs111033294
hapmaprs111033294
1000 genomesrs111033294
hgdprs111033294
ensemblrs111033294
gopubmedrs111033294
geneviewrs111033294
scholarrs111033294
googlers111033294
pharmgkbrs111033294
gwascentralrs111033294
openSNPrs111033294
23andMers111033294
23andMe allrs111033294
SNP Nexus

SNPshotrs111033294
SNPdbers111033294
MSV3drs111033294
GWAS Ctlgrs111033294
GMAF0.0004591
Max Magnitude3
ClinVar
Risk rs111033294(G;G)
Alt rs111033294(G;G)
Reference rs111033294(A;A)
Significance Pathogenic
Disease Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763104T>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000037868.4, RCV000146025.1, RCV000211783.1,


[PMID 12172394] Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.


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