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rs80338943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 deafness associated
(-;C) 3 carrier of deafness-associated variant
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position20189347
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338943
ebirs80338943
HLIrs80338943
Exacrs80338943
Varsomers80338943
Maprs80338943
PheGenIrs80338943
hapmaprs80338943
1000 genomesrs80338943
hgdprs80338943
ensemblrs80338943
gopubmedrs80338943
geneviewrs80338943
scholarrs80338943
googlers80338943
pharmgkbrs80338943
gwascentralrs80338943
openSNPrs80338943
23andMers80338943
23andMe allrs80338943
SNP Nexus

SNPshotrs80338943
SNPdbers80338943
MSV3drs80338943
GWAS Ctlgrs80338943
Max Magnitude6

Also known as 235delC, this SNP in the GJB2 gene is one of the most common nonsyndromic recessive deafness-associated variants in eastern Asian populations.

OMIM121011
Desc
Variant0014
Relatedalso
ClinVar
Risk rs80338943(;)
Alt rs80338943(;)
Reference rs80338943(C;C)
Significance Pathogenic
Disease Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Deafness, digenic, GJB2/GJB3 Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763486delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018538.31, RCV000018539.24, RCV000146011.1, RCV000211768.1,


[PMID 12384] [Nursing and drugs: criticism of total dependence on analgesics for the treatment of pain. Reevaluation of nursing concession to the patient's request, resulting in the development of narcotic dependence].

[PMID 10607953] Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

[PMID 10633133OA-icon.png] Prevalent connexin 26 gene (GJB2) mutations in Japanese.

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

[PMID 17505205] The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.

[PMID 19050930OA-icon.png] Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.