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rs111033401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs111033401(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189573
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033401
ebirs111033401
HLIrs111033401
Exacrs111033401
Varsomers111033401
Maprs111033401
PheGenIrs111033401
hapmaprs111033401
1000 genomesrs111033401
hgdprs111033401
ensemblrs111033401
gopubmedrs111033401
geneviewrs111033401
scholarrs111033401
googlers111033401
pharmgkbrs111033401
gwascentralrs111033401
openSNPrs111033401
23andMers111033401
23andMe allrs111033401
SNP Nexus

SNPshotrs111033401
SNPdbers111033401
MSV3drs111033401
GWAS Ctlgrs111033401
Max Magnitude3
ClinVar
Risk rs111033401(A;A)
Alt rs111033401(A;A)
Reference rs111033401(G;G)
Significance Probable-Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763712C>T
CLNSRC ClinVar
CLNACC RCV000037874.2,


[PMID 15832357] GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.