GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Mutilating keratoderma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033299
rs111033299
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		T 0.700 CausalMutation CLINVAR