GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338943
rs80338943
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673761
Disease:
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		A 0.700 CausalMutation CLINVAR