Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2014

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: rs1801002
rs1801002
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: rs1801002
rs1801002
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: rs1801002
rs1801002
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: rs1801002
rs1801002
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
A 0.700 GeneticVariation CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987

2004

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 12172394

2002

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036

2002

dbSNP: rs1801002
rs1801002
A 0.700 GeneticVariation CLINVAR Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. 10982180

2000