Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease. 26483271

2016
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease. 26483271

2016
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children. 24146181

2013
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 CausalMutation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 18034201

2008
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. 16088907

2005
dbSNP: rs1057516643
rs1057516643
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. 11405812

2001