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rs80338942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 deafness associated
(-;T) 3 carrier of deafness-associated variant
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position20189415
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338942
ebirs80338942
HLIrs80338942
Exacrs80338942
Varsomers80338942
Maprs80338942
PheGenIrs80338942
hapmaprs80338942
1000 genomesrs80338942
hgdprs80338942
ensemblrs80338942
gopubmedrs80338942
geneviewrs80338942
scholarrs80338942
googlers80338942
pharmgkbrs80338942
gwascentralrs80338942
openSNPrs80338942
23andMers80338942
23andMe allrs80338942
SNP Nexus

SNPshotrs80338942
SNPdbers80338942
MSV3drs80338942
GWAS Ctlgrs80338942
Max Magnitude6

Known as 167delT, this is the most common nonsyndromic recessive deafness-associated SNP in Ashkenazi Jewish populations.

rs80338942 is designated as I4000435 by 23andMe.

OMIM121011
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80338942(;)
Alt rs80338942(;)
Reference rs80338942(T;T)
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.20763554delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018534.31, RCV000146010.1, RCV000211757.1,


[PMID 9819448] Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.


[PMID 10903123OA-icon.png] Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.


[PMID 110744] Hydroxyurea or placebo combined with radiation to treat stages IIIB and IV cervical cancer confined to the pelvis.


[PMID 10508996] High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.


[PMID 10982182] The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.


[PMID 11386851] Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.


[PMID 11668644] A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.