GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Mutilating keratoderma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382085021
rs1382085021
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0265964
Disease:
Mutilating keratoderma 		0.010 GeneticVariation BEFREE A dominant mutation at a highly conserved residue, p.Gly130Val, was found in the family with Vohwinkel syndrome. 15954104 2005