Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752850609
rs752850609
ATP7B
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR ATP7B Gene Mutations in Croatian Patients with Wilson Disease. 26799313

2016
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia. 23789284

2013
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. 22735241

2012
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Clinical presentation and mutations in Danish patients with Wilson disease. 21610751

2011
dbSNP: rs752850609
rs752850609
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 18371106

2008
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 18034201

2008
dbSNP: rs752850609
rs752850609
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Ethnic specific background of mutations in Bulgarian patients with Wilson disease. 18286826

2007
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. 17264425

2007
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. 16283883

2005
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%). 12885331

2003
dbSNP: rs752850609
rs752850609
ATP7B
0.810 GeneticVariation BEFREE The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%). 12885331

2003
dbSNP: rs752850609
rs752850609
ATP7B
T 0.810 CausalMutation CLINVAR A study of Wilson disease mutations in Britain. 10502777

1999