Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76434661
rs76434661
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs774518779
rs774518779
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338940
rs80338940
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338944
rs80338944
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338945
rs80338945
GJB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80338948
rs80338948
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338949
rs80338949
GJB2
G 0.700 CausalMutation CLINVAR

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

2004
dbSNP: rs104894401
rs104894401
GJB2
T 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: rs104894408
rs104894408
GJB2
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: rs111033295
rs111033295
GJB2
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: rs1801002
rs1801002
GJB2
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: rs199883710
rs199883710
GJB2
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: rs779018464
rs779018464
GJB2
G 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: rs80338942
rs80338942
GJB2
C 0.700 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs104894401
rs104894401
GJB2
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
GJB2
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
GJB2
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
GJB2
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
GJB2
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
GJB2
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
GJB2
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000
dbSNP: rs777236559
rs777236559
GJB2
0.700 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000
dbSNP: rs767178508
rs767178508
GJB2
T 0.700 GeneticVariation CLINVAR A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473

2004
dbSNP: rs104894401
rs104894401
GJB2
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2003