Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908

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 The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344

2012

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. 20234132

2010

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006

dbSNP: rs76434661
rs76434661
T 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: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. 12910486

2003

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. 12925341

2003

dbSNP: rs76434661
rs76434661
T 0.700 GeneticVariation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001

dbSNP: rs76434661
rs76434661
T 0.700 CausalMutation CLINVAR