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rs80338950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs80338950(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189031
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338950
ebirs80338950
HLIrs80338950
Exacrs80338950
Varsomers80338950
Maprs80338950
PheGenIrs80338950
hapmaprs80338950
1000 genomesrs80338950
hgdprs80338950
ensemblrs80338950
gopubmedrs80338950
geneviewrs80338950
scholarrs80338950
googlers80338950
pharmgkbrs80338950
gwascentralrs80338950
openSNPrs80338950
23andMers80338950
23andMe allrs80338950
SNP Nexus

SNPshotrs80338950
SNPdbers80338950
MSV3drs80338950
GWAS Ctlgrs80338950
Max Magnitude0
OMIM121011
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338950(A,C;A,C)
Alt rs80338950(A,C;A,C)
Reference rs80338950(G;G)
Significance Other
Disease Deafness Non-syndromic genetic deafness Hearing impairment
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness Deafness, autosomal dominant 3a Hearing impairment
Reversed 1
HGVS NC_000013.10:g.20763170C>G; NC_000013.10:g.20763170C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018531.31, RCV000211781.1, RCV000022511.28, RCV000146024.1,


[PMID 9336442] Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.


[PMID 14735592] Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness.


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