Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204597
rs786204597
GJB2
T 0.700 GeneticVariation CLINVAR [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients]. 19567088

2009
dbSNP: rs786204597
rs786204597
GJB2
T 0.700 GeneticVariation CLINVAR [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. 22567861

2012
dbSNP: rs397516873
rs397516873
GJB2
G 0.700 GeneticVariation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs76434661
rs76434661
GJB2
T 0.700 GeneticVariation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs76434661
rs76434661
GJB2
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: rs779018464
rs779018464
GJB2
G 0.700 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645

2013
dbSNP: rs111033295
rs111033295
GJB2
A 0.700 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482

1997
dbSNP: rs80338943
rs80338943
GJB2
A 0.700 CausalMutation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999
dbSNP: rs76434661
rs76434661
GJB2
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: rs786204597
rs786204597
GJB2
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: rs28931593
rs28931593
GJB2
T 0.700 CausalMutation CLINVAR The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 16059934

2005
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: rs1801002
rs1801002
GJB2
A 0.700 GeneticVariation CLINVAR Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia. 19929407

2010
dbSNP: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2013
dbSNP: rs76434661
rs76434661
GJB2
T 0.700 GeneticVariation CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908

2014
dbSNP: rs76434661
rs76434661
GJB2
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: rs104894401
rs104894401
GJB2
T 0.800 GeneticVariation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs104894401
rs104894401
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs104894402
rs104894402
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs104894406
rs104894406
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs104894407
rs104894407
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs104894413
rs104894413
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs28931595
rs28931595
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001