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rs80338941

From SNPedia

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


Make rs80338941(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189526
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338941
ebirs80338941
HLIrs80338941
Exacrs80338941
Varsomers80338941
Maprs80338941
PheGenIrs80338941
hapmaprs80338941
1000 genomesrs80338941
hgdprs80338941
ensemblrs80338941
gopubmedrs80338941
geneviewrs80338941
scholarrs80338941
googlers80338941
pharmgkbrs80338941
gwascentralrs80338941
openSNPrs80338941
23andMers80338941
23andMe allrs80338941
SNP Nexus

SNPshotrs80338941
SNPdbers80338941
MSV3drs80338941
GWAS Ctlgrs80338941
Max Magnitude3
ClinVar
Risk rs80338941(C,T;C,T)
Alt rs80338941(C,T;C,T)
Reference rs80338941(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763665C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020575.2,


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