Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. 26778469

2016
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR A Mayan founder mutation is a common cause of deafness in Guatemala. 26346709

2016
dbSNP: rs1291519904
rs1291519904
GJB2
C 0.800 CausalMutation CLINVAR Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province. 27534436

2016
dbSNP: rs1291519904
rs1291519904
GJB2
C 0.800 CausalMutation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs1291519904
rs1291519904
GJB2
C 0.800 CausalMutation CLINVAR An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 26763877

2016
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 CausalMutation CLINVAR Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2. 27623246

2016
dbSNP: rs104894409
rs104894409
GJB2
G 0.800 CausalMutation CLINVAR Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. 26188157

2015
dbSNP: rs111033190
rs111033190
GJB2
T 0.800 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
dbSNP: rs72474224
rs72474224
GJB2
T 0.800 CausalMutation CLINVAR Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene. 26088551

2015
dbSNP: rs72474224
rs72474224
GJB2
T 0.800 CausalMutation CLINVAR The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals. 26061099

2015
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 CausalMutation CLINVAR Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China. 26095810

2015
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family. 25708704

2015
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes. 26117665

2015
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region. 26381000

2015
dbSNP: rs104894409
rs104894409
GJB2
T 0.800 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2014
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: rs72474224
rs72474224
GJB2
T 0.800 CausalMutation CLINVAR Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 25262649

2014
dbSNP: rs80338945
rs80338945
GJB2
G 0.800 CausalMutation CLINVAR Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss. 24793888

2014
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908

2014
dbSNP: rs104894409
rs104894409
GJB2
T 0.800 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2013
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR GJB2-associated hearing loss undetected by hearing screening of newborns. 24013081

2013
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729

2013
dbSNP: rs104894409
rs104894409
GJB2
G 0.800 CausalMutation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729

2013
dbSNP: rs104894409
rs104894409
GJB2
G 0.800 CausalMutation CLINVAR Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. 24158611

2013