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rs111033204

From SNPedia

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


Make rs111033204(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189282
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033204
ebirs111033204
HLIrs111033204
Exacrs111033204
Varsomers111033204
Maprs111033204
PheGenIrs111033204
hapmaprs111033204
1000 genomesrs111033204
hgdprs111033204
ensemblrs111033204
gopubmedrs111033204
geneviewrs111033204
scholarrs111033204
googlers111033204
pharmgkbrs111033204
gwascentralrs111033204
openSNPrs111033204
23andMers111033204
23andMe allrs111033204
SNP Nexus

SNPshotrs111033204
SNPdbers111033204
MSV3drs111033204
GWAS Ctlgrs111033204
Max Magnitude3
ClinVar
Risk rs111033204(;)
Alt rs111033204(;)
Reference rs111033204(AT;AT)
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.20763421_20763422delAT
CLNSRC ClinVar
CLNACC RCV000037835.5, RCV000211773.1,


[PMID 10633133OA-icon.png] Prevalent connexin 26 gene (GJB2) mutations in Japanese.

[PMID 10983956] Connexin26 mutations associated with nonsyndromic hearing loss.

[PMID 11385713] Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.

[PMID 11438992] Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

[PMID 12111646] Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.