rs774518779, GJB2

N. diseases: 9
Disease: hearing impairment ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.010 GeneticVariation BEFREE Here we show in the participating extended family a homozygous mutation c.506G>A, (TGC>TAC) p.Cys169Tyr, in the GJB2 gene, which could be proven for the first time and led to nonsyndromal severe hearing impairment in the afflicted patients. 24551843 2014