GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Knuckle pads, leuconychia and sensorineural deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338942
rs80338942
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease:
Knuckle pads, leuconychia and sensorineural deafness 		C 0.700 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007