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rs80338947

From SNPedia

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


Make rs80338947(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189222
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338947
ebirs80338947
HLIrs80338947
Exacrs80338947
Varsomers80338947
Maprs80338947
PheGenIrs80338947
hapmaprs80338947
1000 genomesrs80338947
hgdprs80338947
ensemblrs80338947
gopubmedrs80338947
geneviewrs80338947
scholarrs80338947
googlers80338947
pharmgkbrs80338947
gwascentralrs80338947
openSNPrs80338947
23andMers80338947
23andMe allrs80338947
SNP Nexus

SNPshotrs80338947
SNPdbers80338947
MSV3drs80338947
GWAS Ctlgrs80338947
Max Magnitude3
ClinVar
Risk rs80338947(;)
Alt rs80338947(;)
Reference rs80338947(GAG;GAG)
Significance Pathogenic
Disease Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763361_20763363delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018530.33, RCV000146018.1, RCV000211776.1,


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

[PMID 12673800] Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

[PMID 15666300] GJB2 mutations: passage through Iran.

[PMID 15967879] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

[PMID 16712961] Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

[PMID 18941476OA-icon.png] Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.