Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Molecular genetics study of deafness in Brazil: 8-year experience. 17567887

2007

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2015

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). 11438992

2001

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes. 22991996

2013

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

2001

dbSNP: rs104894401
rs104894401
T 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: rs104894401
rs104894401
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378

2013

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 21040787

2011

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472

2009

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356

2010

dbSNP: rs104894401
rs104894401
T 0.800 GeneticVariation CLINVAR High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. 17485979

2007

dbSNP: rs104894402
rs104894402
A 0.800 CausalMutation CLINVAR Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 9856479

1998

dbSNP: rs104894402
rs104894402
A 0.800 CausalMutation CLINVAR De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 11354642

2001

dbSNP: rs104894406
rs104894406
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894407
rs104894407
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894413
rs104894413
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894413
rs104894413
T 0.800 CausalMutation CLINVAR

dbSNP: rs28931595
rs28931595
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
G 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894396
rs104894396
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894397
rs104894397
G 0.700 CausalMutation CLINVAR

dbSNP: rs104894398
rs104894398
A 0.700 CausalMutation CLINVAR