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rs111033451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a recessive deafness mutation
Make rs111033451(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189563
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033451
ebirs111033451
HLIrs111033451
Exacrs111033451
Varsomers111033451
Maprs111033451
PheGenIrs111033451
hapmaprs111033451
1000 genomesrs111033451
hgdprs111033451
ensemblrs111033451
gopubmedrs111033451
geneviewrs111033451
scholarrs111033451
googlers111033451
pharmgkbrs111033451
gwascentralrs111033451
openSNPrs111033451
23andMers111033451
23andMe allrs111033451
SNP Nexus

SNPshotrs111033451
SNPdbers111033451
MSV3drs111033451
GWAS Ctlgrs111033451
Max Magnitude3
ClinVar
Risk rs111033451(T;T)
Alt rs111033451(T;T)
Reference rs111033451(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.20763702G>A
CLNSRC ClinVar
CLNACC RCV000037820.4, RCV000211718.1,


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