GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Progressive hearing loss stapes fixation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033293
rs111033293
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1844678
Disease:
Progressive hearing loss stapes fixation 		C 0.700 CausalMutation CLINVAR