Gene: GJB3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315316
rs74315316
GJB3 ; SMIM12 ; LOC105378642
0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382

2009
dbSNP: rs74315317
rs74315317
GJB3 ; SMIM12 ; LOC105378642
0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382

2009
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382

2009