Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs371086981
rs371086981
GJB2
G 0.700 GeneticVariation CLINVAR Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. 21094651

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: 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: 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: 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: 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: 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: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. 19235794

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
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: rs779018464
rs779018464
GJB2
G 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
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: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 18472371

2008
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR GJB2 mutations in Baluchi population. 18776652

2008
dbSNP: rs104894408
rs104894408
GJB2
A 0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 17660464

2007
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 17935238

2007
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs1801002
rs1801002
GJB2
A 0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs199883710
rs199883710
GJB2
A 0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs779018464
rs779018464
GJB2
G 0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064

2007
dbSNP: rs80338942
rs80338942
GJB2
C 0.700 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007