GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: hearing impairment ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776848994
rs776848994
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c.-23 + 1G> A were identified in 10.78% and the 9.8% of patients respectively; c.35delG homozygotes presented more severe hearing impairment (75.59% of profound hearing loss) and a higher mean PTA0.25-4 kHz (96.79 ± 21.11 dB HL) with respect to c.35delG/non-c.35delG and c.35delG/Wt patients (P < 0.05). 24793888 2014