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

rs111033420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033420(A;A)
Make rs111033420(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189126
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033420
ebirs111033420
HLIrs111033420
Exacrs111033420
Varsomers111033420
Maprs111033420
PheGenIrs111033420
hapmaprs111033420
1000 genomesrs111033420
hgdprs111033420
ensemblrs111033420
gopubmedrs111033420
geneviewrs111033420
scholarrs111033420
googlers111033420
pharmgkbrs111033420
gwascentralrs111033420
openSNPrs111033420
23andMers111033420
23andMe allrs111033420
SNP Nexus

SNPshotrs111033420
SNPdbers111033420
MSV3drs111033420
GWAS Ctlgrs111033420
Max Magnitude0
ClinVar
Risk rs111033420(A;A)
Alt rs111033420(A;A)
Reference rs111033420(C;C)
Significance Probable-Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763265G>T
CLNSRC ClinVar
CLNACC RCV000037856.2,


[PMID 12865758] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.


[PMID 19366456OA-icon.png] GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.