Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307057
rs1085307057
ATP7B
A 0.700 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs1085307057
rs1085307057
ATP7B
A 0.700 CausalMutation CLINVAR Successful liver transplantation following veno-arterial extracorporeal membrane oxygenation in a child with fulminant Wilson disease and severe pulmonary hemorrhage: a case report. 22093921

2012
dbSNP: rs1085307057
rs1085307057
ATP7B
A 0.700 CausalMutation CLINVAR Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. 21645214

2011