GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: hearing impairment ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143343083
rs143343083
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR