Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931594
rs28931594
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		A 0.880 CausalMutation CLINVAR

dbSNP: rs28931594
rs28931594
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		T 0.880 CausalMutation CLINVAR

dbSNP: rs104894408
rs104894408
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		G 0.850 CausalMutation CLINVAR

dbSNP: rs104894408
rs104894408
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		A 0.850 GeneticVariation CLINVAR

dbSNP: rs104894403
rs104894403
GJB2
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		G 0.830 CausalMutation CLINVAR

dbSNP: rs104894410
rs104894410
GJB2
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		T 0.810 CausalMutation CLINVAR

dbSNP: rs28929485
rs28929485
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		A 0.810 CausalMutation CLINVAR

dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 CausalMutation CLINVAR Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations. 22785241

2012
dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 CausalMutation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005
dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 CausalMutation CLINVAR GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. 15967879

2005
dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 CausalMutation CLINVAR High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 16088916

2005
dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 CausalMutation CLINVAR Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 12505163

2003
dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 CausalMutation CLINVAR Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. 10556284

1999
dbSNP: rs104894397
rs104894397
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		G 0.800 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2015
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378

2013
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes. 22991996

2013
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 21040787

2011
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356

2010
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472

2009
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. 17485979

2007
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		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: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Molecular genetics study of deafness in Brazil: 8-year experience. 17567887

2007
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006
dbSNP: rs104894401
rs104894401
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.800 GeneticVariation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001