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: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800

1997
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442

1997
dbSNP: rs80338939
rs80338939
GJB2
A 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: rs104894401
rs104894401
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs104894402
rs104894402
GJB2
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
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs104894406
rs104894406
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs104894407
rs104894407
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs104894413
rs104894413
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs28931595
rs28931595
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs777236559
rs777236559
GJB2
0.700 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574

1999
dbSNP: rs80338943
rs80338943
GJB2
A 0.700 CausalMutation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999
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