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 GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987

2004
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR GJB2 mutations: passage through Iran. 15666300

2005
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756

2012
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Molecular epidemiology of DFNB1 deafness in France. 15070423

2004
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 15617550

2005
dbSNP: rs111033293
rs111033293
GJB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs111033294
rs111033294
GJB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 16222667

2005
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Clinical presentation of DFNB1. 12408072

2002
dbSNP: rs111033295
rs111033295
GJB2
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: 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: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. 12865758

2004
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR GJB2 mutations in Baluchi population. 18776652

2008
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 CausalMutation CLINVAR

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

2012
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 26444186

2016
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
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: rs111033299
rs111033299
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1566528901
rs1566528901
GJB2
A 0.700 CausalMutation CLINVAR

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

2000
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