GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Sensorineural hearing loss, bilateral ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0452138
Disease:
Sensorineural hearing loss, bilateral 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894401
rs104894401
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0452138
Disease:
Sensorineural hearing loss, bilateral 		0.010 GeneticVariation BEFREE p.R143Q mutation in GJB2 can cause mild to profound bilateral sensorineural hearing impairment. 22991996 2013
dbSNP: rs80338950
rs80338950
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0452138
Disease:
Sensorineural hearing loss, bilateral 		0.010 GeneticVariation BEFREE A de novo GJB2 p.R184Q mutation can cause severe-to-profound bilateral sensorineural hearing impairment. 21868108 2011