Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894406
rs104894406
0.800 CausalMutation CLINVAR A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs104894402
rs104894402
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: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

dbSNP: rs104894402
rs104894402
0.800 CausalMutation CLINVAR Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 9139825

1997

dbSNP: rs104894401
rs104894401
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894402
rs104894402
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894406
rs104894406
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894407
rs104894407
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894413
rs104894413
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs28931595
rs28931595
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs80338950
rs80338950
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894402
rs104894402
0.800 GeneticVariation UNIPROT

dbSNP: rs111033295
rs111033295
0.700 GeneticVariation CLINVAR Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 26444186

2016

dbSNP: rs1801002
rs1801002
0.700 GeneticVariation CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044

2016

dbSNP: rs76434661
rs76434661
0.700 GeneticVariation CLINVAR Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. 25266519

2016

dbSNP: rs104894396
rs104894396
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs104894398
rs104894398
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

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

2015

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782

2015

dbSNP: rs1064797090
rs1064797090
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

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

2015

dbSNP: rs111033294
rs111033294
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs111033295
rs111033295
0.700 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

dbSNP: rs111033299
rs111033299
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015