Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs104894413
rs104894413
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs28931595
rs28931595
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs80338950
rs80338950
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

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

1998

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

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

1998

dbSNP: rs104894413
rs104894413
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

dbSNP: rs28931595
rs28931595
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

dbSNP: rs80338950
rs80338950
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

dbSNP: rs104894401
rs104894401
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894406
rs104894406
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894407
rs104894407
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894413
rs104894413
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894413
rs104894413
T 0.800 CausalMutation CLINVAR

dbSNP: rs28931595
rs28931595
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
G 0.800 CausalMutation CLINVAR

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

2016

dbSNP: rs104894408
rs104894408
A 0.700 GeneticVariation CLINVAR Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 26252218

2015

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

2015

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

2015