Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362

2000
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760

1999
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209

1998
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
C 0.800 CausalMutation CLINVAR