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rs80338939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 deafness associated
(-;G) 3 carrier of most common deafness-associated variant in Caucasians
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position20189547
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338939
ebirs80338939
HLIrs80338939
Exacrs80338939
Varsomers80338939
Maprs80338939
PheGenIrs80338939
hapmaprs80338939
1000 genomesrs80338939
hgdprs80338939
ensemblrs80338939
gopubmedrs80338939
geneviewrs80338939
scholarrs80338939
googlers80338939
pharmgkbrs80338939
gwascentralrs80338939
openSNPrs80338939
23andMers80338939
23andMe allrs80338939
SNP Nexus

SNPshotrs80338939
SNPdbers80338939
MSV3drs80338939
GWAS Ctlgrs80338939
Max Magnitude6

rs80338939, also known as 35delG or in some cases 30delG, is a SNP in the GJB2 gene. This variant is the most common one associated (when present in two copies) with autosomal recessive nonsyndromic hearing loss, i.e. deafness.

Note: In 23andMe data, this SNP is referred to as i4000434.

OMIM121011
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338939(;)
Alt rs80338939(;)
Reference rs80338939(G;G)
Significance Pathogenic
Disease Deafness not provided Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Deafness, digenic, GJB2/GJB6 not provided Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763686delC
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000018527.37, RCV000018528.30, RCV000080373.5, RCV000146019.1, RCV000211775.1,


[PMID 125225] Trisomy 21 and trisomy 18 in half-siblings.


[PMID 9328482] Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.


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


[PMID 11313751] On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe.


[PMID 12176036] Hearing loss: frequency and functional studies of the most common connexin26 alleles.


[PMID 16088916] High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.


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


[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.