GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338948
rs80338948
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1865234
Disease:
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80338950
rs80338950
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1865234
Disease:
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		G 0.700 CausalMutation CLINVAR