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rs80338949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a recessive deafness mutation
Make rs80338949(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189095
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338949
ebirs80338949
HLIrs80338949
Exacrs80338949
Varsomers80338949
Maprs80338949
PheGenIrs80338949
hapmaprs80338949
1000 genomesrs80338949
hgdprs80338949
ensemblrs80338949
gopubmedrs80338949
geneviewrs80338949
scholarrs80338949
googlers80338949
pharmgkbrs80338949
gwascentralrs80338949
openSNPrs80338949
23andMers80338949
23andMe allrs80338949
SNP Nexus

SNPshotrs80338949
SNPdbers80338949
MSV3drs80338949
GWAS Ctlgrs80338949
Max Magnitude3
ClinVar
Risk rs80338949(G;G)
Alt rs80338949(G;G)
Reference rs80338949(A;A)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A not specified
Reversed 1
HGVS NC_000013.10:g.20763234T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020573.2, RCV000037860.3,


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


[PMID 15964] Clinical pharmacology of adrenergic beta-receptor blocking drugs.


[PMID 11493200] Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.


[PMID 12189487] Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.


[PMID 12872268] The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.


[PMID 14643477] GJB2 gene mutations causing familial hereditary deafness in Turkey.


[PMID 17041943OA-icon.png] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.