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rs80338944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs80338944(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189351
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338944
ebirs80338944
HLIrs80338944
Exacrs80338944
Varsomers80338944
Maprs80338944
PheGenIrs80338944
hapmaprs80338944
1000 genomesrs80338944
hgdprs80338944
ensemblrs80338944
gopubmedrs80338944
geneviewrs80338944
scholarrs80338944
googlers80338944
pharmgkbrs80338944
gwascentralrs80338944
openSNPrs80338944
23andMers80338944
23andMe allrs80338944
SNP Nexus

SNPshotrs80338944
SNPdbers80338944
MSV3drs80338944
GWAS Ctlgrs80338944
Max Magnitude3
OMIM121011
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338944(A;A)
Alt rs80338944(A;A)
Reference rs80338944(G;G)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763490C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018524.32, RCV000211767.1,


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


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