Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001
dbSNP: rs80338950
rs80338950
GJB2
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
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: rs80338950
rs80338950
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
dbSNP: rs80338950
rs80338950
GJB2
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR

dbSNP: rs80338950
rs80338950
GJB2
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: rs80338949
rs80338949
GJB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80338948
rs80338948
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338945
rs80338945
GJB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80338944
rs80338944
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338943
rs80338943
GJB2
A 0.700 CausalMutation CLINVAR Functional study of GJB2 in hereditary hearing loss. 12352684

2002
dbSNP: rs80338943
rs80338943
GJB2
A 0.700 CausalMutation CLINVAR Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 12505163

2003
dbSNP: rs80338943
rs80338943
GJB2
A 0.700 CausalMutation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999
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: rs80338940
rs80338940
GJB2
T 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: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392

2002
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: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883

2000
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064

2007