Gene: GJB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR GJB2 mutations: passage through Iran. 15666300

2005
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756

2012
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Molecular epidemiology of DFNB1 deafness in France. 15070423

2004
dbSNP: rs111033190
rs111033190
GJB2
T 0.700 CausalMutation CLINVAR Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 15617550

2005
dbSNP: rs111033293
rs111033293
GJB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs111033294
rs111033294
GJB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs111033295
rs111033295
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs111033299
rs111033299
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1566528901
rs1566528901
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs28931593
rs28931593
GJB2
T 0.700 CausalMutation CLINVAR The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 16059934

2005
dbSNP: rs371024165
rs371024165
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs727503066
rs727503066
GJB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs76434661
rs76434661
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs774518779
rs774518779
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
dbSNP: rs80338940
rs80338940
GJB2
T 0.700 CausalMutation CLINVAR

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