Gene: GJB2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. 19157576

2009
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 12172394

2002
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population. 25085072

2014
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. 20154630

2010
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 12239718

2002
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. 12562518

2003
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 9529365

1998
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. 12081719

2002
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 16222667

2005
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. 16217030

2005
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. 15967879

2005
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 GeneticVariation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004
dbSNP: rs111033299
rs111033299
GJB2
T 0.800 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: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 12172394

2002
dbSNP: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004
dbSNP: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR GJB2 mutations in Baluchi population. 18776652

2008
dbSNP: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. 22592158

2012
dbSNP: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR A large cohort study of GJB2 mutations in Japanese hearing loss patients. 20497192

2010
dbSNP: rs397516875
rs397516875
GJB2
A 0.800 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. 27169813

2016
dbSNP: rs72474224
rs72474224
GJB2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs779018464
rs779018464
GJB2
G 0.800 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 0.800 GeneticVariation CLINVAR DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. 20650534

2010
dbSNP: rs779018464
rs779018464
GJB2
G 0.800 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