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rs111033217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a recessive deafness mutation
Make rs111033217(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189538
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033217
ebirs111033217
HLIrs111033217
Exacrs111033217
Varsomers111033217
Maprs111033217
PheGenIrs111033217
hapmaprs111033217
1000 genomesrs111033217
hgdprs111033217
ensemblrs111033217
gopubmedrs111033217
geneviewrs111033217
scholarrs111033217
googlers111033217
pharmgkbrs111033217
gwascentralrs111033217
openSNPrs111033217
23andMers111033217
23andMe allrs111033217
SNP Nexus

SNPshotrs111033217
SNPdbers111033217
MSV3drs111033217
GWAS Ctlgrs111033217
Max Magnitude3
ClinVar
Risk rs111033217(C;C)
Alt rs111033217(C;C)
Reference rs111033217(A;A)
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.20763677T>G
CLNSRC ClinVar
CLNACC RCV000037855.5, RCV000211780.1,


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


[PMID 12925341] Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.