Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756

2012
dbSNP: rs786204597
rs786204597
GJB2
T 0.700 GeneticVariation CLINVAR [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. 22567861

2012
dbSNP: rs1801002
rs1801002
GJB2
A 0.700 GeneticVariation CLINVAR GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China. 21777984

2011
dbSNP: rs397516873
rs397516873
GJB2
G 0.700 GeneticVariation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs76434661
rs76434661
GJB2
T 0.700 GeneticVariation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs371086981
rs371086981
GJB2
G 0.700 GeneticVariation CLINVAR Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. 21094651

2011
dbSNP: rs786204597
rs786204597
GJB2
T 0.700 GeneticVariation CLINVAR Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously. 21094084

2011
dbSNP: rs104894401
rs104894401
GJB2
T 0.800 GeneticVariation CLINVAR Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 21040787

2011
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. 20863150

2011
dbSNP: rs779018464
rs779018464
GJB2
G 0.700 GeneticVariation CLINVAR DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. 20650534

2010
dbSNP: rs76434661
rs76434661
GJB2
T 0.700 GeneticVariation CLINVAR GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. 20234132

2010
dbSNP: rs104894401
rs104894401
GJB2
T 0.800 GeneticVariation CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356

2010
dbSNP: rs767178508
rs767178508
GJB2
T 0.700 GeneticVariation CLINVAR Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. 20022641

2010
dbSNP: rs1801002
rs1801002
GJB2
A 0.700 GeneticVariation CLINVAR Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia. 19929407

2010
dbSNP: rs104894401
rs104894401
GJB2
T 0.800 GeneticVariation CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472

2009
dbSNP: rs786204597
rs786204597
GJB2
T 0.700 GeneticVariation CLINVAR [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients]. 19567088

2009
dbSNP: rs104894401
rs104894401
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs104894402
rs104894402
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs104894406
rs104894406
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs104894407
rs104894407
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs104894413
rs104894413
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs28931595
rs28931595
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs777236559
rs777236559
GJB2
0.700 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs1801002
rs1801002
GJB2
A 0.700 GeneticVariation CLINVAR Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. 19371219

2009