GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Hidrotic Ectodermal Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770612890
rs770612890
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.700 GeneticVariation CLINVAR Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 25262649 2014
dbSNP: rs770612890
rs770612890
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		T 0.700 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989 2006