Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894401
rs104894401
GJB2
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894402
rs104894402
GJB2
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
GJB2
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
GJB2
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894407
rs104894407
GJB2
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894413
rs104894413
GJB2
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894413
rs104894413
GJB2
T 0.800 CausalMutation CLINVAR

dbSNP: rs28931595
rs28931595
GJB2
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
GJB2
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894396
rs104894396
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894397
rs104894397
GJB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs104894398
rs104894398
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 18472371

2008
dbSNP: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2014
dbSNP: rs104894409
rs104894409
GJB2
T 0.700 CausalMutation CLINVAR A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 17660464

2007
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: rs1064797088
rs1064797088
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797089
rs1064797089
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797090
rs1064797090
GJB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. 20863150

2011
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. 11584050

2001
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 17935238

2007
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987

2004