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rs111033253

From SNPedia

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


Make rs111033253(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189256
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033253
ebirs111033253
HLIrs111033253
Exacrs111033253
Varsomers111033253
Maprs111033253
PheGenIrs111033253
hapmaprs111033253
1000 genomesrs111033253
hgdprs111033253
ensemblrs111033253
gopubmedrs111033253
geneviewrs111033253
scholarrs111033253
googlers111033253
pharmgkbrs111033253
gwascentralrs111033253
openSNPrs111033253
23andMers111033253
23andMe allrs111033253
SNP Nexus

SNPshotrs111033253
SNPdbers111033253
MSV3drs111033253
GWAS Ctlgrs111033253
Max Magnitude3
ClinVar
Risk rs111033253(;)
Alt rs111033253(;)
Reference rs111033253(AAGTTCATCAAGGG;AAGTTCATCAAGGG)
Significance Pathogenic
Disease Deafness not provided Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A not provided Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763395_20763408delCCCTTGATGAACTT
CLNSRC HGMD
CLNACC RCV000037836.4, RCV000080370.3, RCV000146016.1, RCV000211774.1,


[PMID 16379] Cation binding by tobacco mosaic virus.


[PMID 11551103] High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.


[PMID 12112666] Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.


[PMID 15146474] GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.


[PMID 15253766] Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.


[PMID 15967879] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.