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rs80338945

From SNPedia

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


Make rs80338945(C;C)
ReferenceGRCh38 38.1/142
Chromosome13
Position20189313
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338945
ebirs80338945
HLIrs80338945
Exacrs80338945
Varsomers80338945
Maprs80338945
PheGenIrs80338945
hapmaprs80338945
1000 genomesrs80338945
hgdprs80338945
ensemblrs80338945
gopubmedrs80338945
geneviewrs80338945
scholarrs80338945
googlers80338945
pharmgkbrs80338945
gwascentralrs80338945
openSNPrs80338945
23andMers80338945
23andMe allrs80338945
SNP Nexus

SNPshotrs80338945
SNPdbers80338945
MSV3drs80338945
GWAS Ctlgrs80338945
Max Magnitude3
OMIM121011
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80338945(C;C)
Alt rs80338945(C;C)
Reference rs80338945(T;T)
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.20763452A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000018541.32, RCV000080369.3, RCV000146013.2, RCV000211772.1,


[PMID 11313763] Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.


[PMID 16380907OA-icon.png] GJB2 mutations and degree of hearing loss: a multicenter study.


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