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: rs104894413
rs104894413
GJB2
T 0.700 CausalMutation CLINVAR A Mayan founder mutation is a common cause of deafness in Guatemala. 26346709

2016
dbSNP: rs111033253
rs111033253
GJB2
C 0.700 CausalMutation CLINVAR The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. 26896187

2016
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: rs1422767764
rs1422767764
GJB2
A 0.700 GeneticVariation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

2016
dbSNP: rs143343083
rs143343083
GJB2
A 0.700 CausalMutation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

2016
dbSNP: rs35887622
rs35887622
GJB2
G 0.700 GeneticVariation CLINVAR The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. 26896187

2016
dbSNP: rs532203068
rs532203068
GJB2
C 0.700 GeneticVariation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

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: rs104894396
rs104894396
GJB2
T 0.700 CausalMutation CLINVAR Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan. 25636251

2015
dbSNP: rs104894401
rs104894401
GJB2
T 0.700 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2015
dbSNP: rs104894401
rs104894401
GJB2
T 0.700 CausalMutation CLINVAR Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia. 24372583

2015