Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894402
rs104894402
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2003

dbSNP: rs104894402
rs104894402
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs104894402
rs104894402
0.800 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001

dbSNP: rs104894402
rs104894402
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009

dbSNP: rs104894402
rs104894402
A 0.800 CausalMutation CLINVAR De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 11354642

2001

dbSNP: rs104894402
rs104894402
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 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604

2003

dbSNP: rs104894406
rs104894406
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2003

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

1998

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604

2003

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001

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: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009

dbSNP: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001

dbSNP: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009

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: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2003

dbSNP: rs104894407
rs104894407
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604

2003

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

1998

dbSNP: rs104894408
rs104894408
A 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: 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