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rs80338946

From SNPedia

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


Make rs80338946(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189243
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338946
ebirs80338946
HLIrs80338946
Exacrs80338946
Varsomers80338946
Maprs80338946
PheGenIrs80338946
hapmaprs80338946
1000 genomesrs80338946
hgdprs80338946
ensemblrs80338946
gopubmedrs80338946
geneviewrs80338946
scholarrs80338946
googlers80338946
pharmgkbrs80338946
gwascentralrs80338946
openSNPrs80338946
23andMers80338946
23andMe allrs80338946
SNP Nexus

SNPshotrs80338946
SNPdbers80338946
MSV3drs80338946
GWAS Ctlgrs80338946
Max Magnitude3
ClinVar
Risk rs80338946(G;G)
Alt rs80338946(G;G)
Reference rs80338946(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763382A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020568.2,


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