Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China. 26095810

2015
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. 19366456

2009
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. 16300957

2006
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Mutation analysis of the GJB2 (connexin 26) gene in Egypt. 15954104

2005
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. 15241677

2004
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 12560944

2003
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. 12562518

2003
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392

2002
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. 10982180

2000
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Prevalent connexin 26 gene (GJB2) mutations in Japanese. 10633133

2000
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 CausalMutation CLINVAR Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. 9471561

1998
dbSNP: rs80338948
rs80338948
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.800 GeneticVariation CLINVAR