Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338946
rs80338946
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 GeneticVariation CLINVAR [Genetic analysis and prenatal diagnosis for non-syndromic hearing impairment]. 24078562

2013
dbSNP: rs80338946
rs80338946
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 GeneticVariation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005
dbSNP: rs80338946
rs80338946
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 GeneticVariation CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987

2004
dbSNP: rs80338946
rs80338946
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 GeneticVariation CLINVAR Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 12505163

2003
dbSNP: rs80338946
rs80338946
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 GeneticVariation CLINVAR Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 9529365

1998
dbSNP: rs80338946
rs80338946
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR