Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033295
rs111033295
A 0.700 GeneticVariation CLINVAR Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 26444186

2016

dbSNP: rs104894408
rs104894408
A 0.700 GeneticVariation CLINVAR Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 26252218

2015

dbSNP: rs111033190
rs111033190
T 0.700 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

dbSNP: rs111033295
rs111033295
A 0.700 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044

2015

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. 25625422

2015

dbSNP: rs104894408
rs104894408
A 0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2014

dbSNP: rs104894409
rs104894409
T 0.700 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2014

dbSNP: rs1057517519
rs1057517519
G 0.700 GeneticVariation CLINVAR Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. 24256046

2014

dbSNP: rs1057517519
rs1057517519
G 0.700 GeneticVariation CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782

2014

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2014

dbSNP: rs587783647
rs587783647
A 0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2014

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. 25266519

2014

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908

2014

dbSNP: rs786204597
rs786204597
T 0.700 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014

dbSNP: rs104894409
rs104894409
T 0.700 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2013

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. 24158611

2013

dbSNP: rs779018464
rs779018464
G 0.700 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645

2013

dbSNP: rs786204597
rs786204597
T 0.700 GeneticVariation CLINVAR Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix. 23967136

2013

dbSNP: rs111033190
rs111033190
T 0.700 CausalMutation CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756

2012

dbSNP: rs111033295
rs111033295
A 0.700 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344

2012

dbSNP: rs786204597
rs786204597
T 0.700 GeneticVariation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344

2012

dbSNP: rs786204597
rs786204597
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: rs111033190
rs111033190
T 0.700 CausalMutation CLINVAR Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. 20863150

2011