Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. 26188157

2015
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. 23695287

2013
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729

2013
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. 20146813

2010
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. 18941476

2009
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. 18983339

2008
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		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: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic. 16532460

2006
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Guidelines and recommendations for testing of Cx26 mutations and interpretation of results. 15488970

2004
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. 12910486

2003
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. 12189493

2002
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 10218527

1999
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292

1998
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.700 CausalMutation CLINVAR Initiation of protein synthesis in mammalian cells with codons other than AUG and amino acids other than methionine. 9710598

1998
dbSNP: rs111033293
rs111033293
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 GeneticVariation CLINVAR