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

rs111033293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a recessive deafness mutation
Make rs111033293(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189581
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033293
ebirs111033293
HLIrs111033293
Exacrs111033293
Varsomers111033293
Maprs111033293
PheGenIrs111033293
hapmaprs111033293
1000 genomesrs111033293
hgdprs111033293
ensemblrs111033293
gopubmedrs111033293
geneviewrs111033293
scholarrs111033293
googlers111033293
pharmgkbrs111033293
gwascentralrs111033293
openSNPrs111033293
23andMers111033293
23andMe allrs111033293
SNP Nexus

SNPshotrs111033293
SNPdbers111033293
MSV3drs111033293
GWAS Ctlgrs111033293
Max Magnitude3
ClinVar
Risk rs111033293(G;G)
Alt rs111033293(G;G)
Reference rs111033293(A;A)
Significance Pathogenic
Disease Deafness not specified Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A not specified Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763720T>C
CLNSRC ClinVar
CLNACC RCV000037821.5, RCV000168669.1, RCV000211762.1,


[PMID 9482292] Connexin-26 mutations in sporadic and inherited sensorineural deafness.


[PMID 12189493] Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.


[PMID 18983339] Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.