Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 GeneticVariation CLINVAR

dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR The Wilson disease gene: spectrum of mutations and their consequences. 7626145

1995
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. 9452121

1998
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Oxidative-phosphorylation defects in liver of patients with Wilson's disease. 10981891

2000
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. 11216666

2000
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. 12885331

2003
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation BEFREE In conclusion, the data suggest that R778W and I1102T are most common mutations and provide the basis of genetic (PCR-RFLP) diagnostic tool for Indian WD patients as well as in siblings/parents where biochemical parameters are ambiguous. 17160357

2007
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. 17160357

2007
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. 17823867

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. 20333758

2010
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012