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

1997

dbSNP: rs80338939
rs80338939
0.700 CausalMutation CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800

1998

dbSNP: rs80338939
rs80338939
0.700 CausalMutation CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482

1997

dbSNP: rs80338939
rs80338939
0.700 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442

1997

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

1998

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: rs80338939
rs80338939
0.700 CausalMutation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574

1999

dbSNP: rs80338943
rs80338943
0.700 CausalMutation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999

dbSNP: rs80338939
rs80338939
0.700 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883

2000

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: rs1801002
rs1801002
0.700 GeneticVariation CLINVAR Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. 10982180

2000

dbSNP: rs587783647
rs587783647
0.700 GeneticVariation CLINVAR Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). 11102979

2001

dbSNP: rs104894407
rs104894407
0.800 CausalMutation CLINVAR W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. 11298683

2001

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

2001

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

2001