Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs1801002
rs1801002
0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2015

dbSNP: rs1801002
rs1801002
0.700 GeneticVariation CLINVAR Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. 25625422

2015

dbSNP: rs587783647
rs587783647
0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2015

dbSNP: rs76434661
rs76434661
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: rs786204597
rs786204597
0.700 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2015

dbSNP: rs80338943
rs80338943
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: rs80338945
rs80338945
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: rs80338948
rs80338948
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 Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2014

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. 24256046

2014

dbSNP: rs111033204
rs111033204
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs111033253
rs111033253
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs111033294
rs111033294
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014