Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894402
rs104894402
0.800 GeneticVariation UNIPROT

dbSNP: rs104894397
rs104894397
0.700 CausalMutation CLINVAR

dbSNP: rs1057517491
rs1057517491
0.700 GeneticVariation CLINVAR

dbSNP: rs1057517508
rs1057517508
0.700 GeneticVariation CLINVAR

dbSNP: rs371024165
rs371024165
0.700 GeneticVariation CLINVAR

dbSNP: rs398123814
rs398123814
0.700 CausalMutation CLINVAR

dbSNP: rs587783646
rs587783646
0.700 CausalMutation CLINVAR

dbSNP: rs587783647
rs587783647
0.700 CausalMutation CLINVAR

dbSNP: rs750188782
rs750188782
0.700 CausalMutation CLINVAR

dbSNP: rs767178508
rs767178508
0.700 GeneticVariation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004

dbSNP: rs104894401
rs104894401
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: rs111033295
rs111033295
0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007

dbSNP: rs1801002
rs1801002
0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007

dbSNP: rs199883710
rs199883710
0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007

dbSNP: rs779018464
rs779018464
0.700 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007

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: rs767178508
rs767178508
0.700 GeneticVariation CLINVAR A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473

2004

dbSNP: rs28931595
rs28931595
0.800 CausalMutation CLINVAR A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2004

dbSNP: rs28931595
rs28931595
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2004

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

2007

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

2008

dbSNP: rs104894407
rs104894407
0.800 CausalMutation CLINVAR A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 20854437

2011

dbSNP: rs1801002
rs1801002
0.700 GeneticVariation CLINVAR Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. 19371219

2009

dbSNP: rs779018464
rs779018464
0.700 GeneticVariation CLINVAR Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. 19371219

2009