Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894408
rs104894408
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: 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: 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: rs104894408
rs104894408
A 0.700 GeneticVariation CLINVAR 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. 17041943

2006

dbSNP: rs104894408
rs104894408
A 0.700 GeneticVariation CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987

2004

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

2007

dbSNP: rs104894409
rs104894409
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: rs1057517491
rs1057517491
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517508
rs1057517508
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517519
rs1057517519
G 0.700 GeneticVariation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005

dbSNP: rs1057517519
rs1057517519
G 0.700 GeneticVariation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

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: rs1057517519
rs1057517519
G 0.700 GeneticVariation CLINVAR Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. 16217030

2005

dbSNP: rs1057517521
rs1057517521
C 0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. 15967879

2005

dbSNP: rs1064797088
rs1064797088
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797089
rs1064797089
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797090
rs1064797090
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797090
rs1064797090
C 0.700 CausalMutation CLINVAR

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

dbSNP: rs111033190
rs111033190
T 0.700 CausalMutation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001

dbSNP: rs111033190
rs111033190
T 0.700 CausalMutation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006

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

2007