GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Nonsyndromic Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780320724
rs780320724
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE These findings suggest that the p.A40V mutation in CX30 causes autosomal-dominant nonsyndromic hearing loss. 21731760 2011