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rs111033222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033222(A;A)
Make rs111033222(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189571
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033222
ebirs111033222
HLIrs111033222
Exacrs111033222
Varsomers111033222
Maprs111033222
PheGenIrs111033222
hapmaprs111033222
1000 genomesrs111033222
hgdprs111033222
ensemblrs111033222
gopubmedrs111033222
geneviewrs111033222
scholarrs111033222
googlers111033222
pharmgkbrs111033222
gwascentralrs111033222
openSNPrs111033222
23andMers111033222
23andMe allrs111033222
SNP Nexus

SNPshotrs111033222
SNPdbers111033222
MSV3drs111033222
GWAS Ctlgrs111033222
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs111033222(A,T;A,T)
Alt rs111033222(A,T;A,T)
Reference rs111033222(G;G)
Significance Other
Disease not specified Hearing impairment
Variation info
Gene GJB2
CLNDBN not specified Hearing impairment
Reversed 1
HGVS NC_000013.10:g.20763710C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000037814.3, RCV000146006.1,


[PMID 12792423] Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.


[PMID 15070423OA-icon.png] Molecular epidemiology of DFNB1 deafness in France.


[PMID 17041943OA-icon.png] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.