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rs111033299

From SNPedia

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


Make rs111033299(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189299
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033299
ebirs111033299
HLIrs111033299
Exacrs111033299
Varsomers111033299
Maprs111033299
PheGenIrs111033299
hapmaprs111033299
1000 genomesrs111033299
hgdprs111033299
ensemblrs111033299
gopubmedrs111033299
geneviewrs111033299
scholarrs111033299
googlers111033299
pharmgkbrs111033299
gwascentralrs111033299
openSNPrs111033299
23andMers111033299
23andMe allrs111033299
SNP Nexus

SNPshotrs111033299
SNPdbers111033299
MSV3drs111033299
GWAS Ctlgrs111033299
Max Magnitude3
ClinVar
Risk rs111033299(A;A)
Alt rs111033299(A;A)
Reference rs111033299(G;G)
Significance Pathogenic
Disease Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763438C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000037834.4, RCV000146014.1, RCV000211719.1,


[PMID 169315] [A case of bronchial carcinoid with carcinoid syndrome (author transl)].


[PMID 9529365OA-icon.png] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.


[PMID 12865758] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.


[PMID 14985372OA-icon.png] A genotype-phenotype correlation for GJB2 (connexin 26) deafness.


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


[PMID 16222667] Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.