GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772264564
rs772264564
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.010 GeneticVariation BEFREE 465T-->A nonsense mutation that is associated to autosomal recessive deafness is a novel mutation found by this screening. 15603707 2004