GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: Deafness, Autosomal Dominant 2B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315320
rs74315320
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998