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rs80338948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a recessive deafness mutation
Make rs80338948(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189155
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338948
ebirs80338948
HLIrs80338948
Exacrs80338948
Varsomers80338948
Maprs80338948
PheGenIrs80338948
hapmaprs80338948
1000 genomesrs80338948
hgdprs80338948
ensemblrs80338948
gopubmedrs80338948
geneviewrs80338948
scholarrs80338948
googlers80338948
pharmgkbrs80338948
gwascentralrs80338948
openSNPrs80338948
23andMers80338948
23andMe allrs80338948
SNP Nexus

SNPshotrs80338948
SNPdbers80338948
MSV3drs80338948
GWAS Ctlgrs80338948
GMAF0.0004591
Max Magnitude3
OMIM121011
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338948(T;T)
Alt rs80338948(T;T)
Reference rs80338948(C;C)
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.20763294G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018533.28, RCV000146023.1, RCV000211779.1,


[PMID 9471561] Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.


[PMID 12457154] Selection for deafness?


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


[PMID 10982180] Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.


[PMID 11556849] Connexin 26 studies in patients with sensorineural hearing loss.


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