GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769486081
rs769486081
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		T 0.700 CausalMutation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907 2005