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rs111033190

From SNPedia

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


Make rs111033190(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189487
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033190
ebirs111033190
HLIrs111033190
Exacrs111033190
Varsomers111033190
Maprs111033190
PheGenIrs111033190
hapmaprs111033190
1000 genomesrs111033190
hgdprs111033190
ensemblrs111033190
gopubmedrs111033190
geneviewrs111033190
scholarrs111033190
googlers111033190
pharmgkbrs111033190
gwascentralrs111033190
openSNPrs111033190
23andMers111033190
23andMe allrs111033190
SNP Nexus

SNPshotrs111033190
SNPdbers111033190
MSV3drs111033190
GWAS Ctlgrs111033190
Max Magnitude3
ClinVar
Risk rs111033190(A,T;A,T)
Alt rs111033190(A,T;A,T)
Reference rs111033190(G;G)
Significance Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763626C>T
CLNSRC ClinVar
CLNACC RCV000037873.2,


[PMID 11584050OA-icon.png] Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.