Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Clinical features and outcome in patients with osseomuscular type of Wilson's disease. 28212618

2017
dbSNP: rs60431989
rs60431989
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: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Phenotype/genotype correlation analysis suggested that the patients with c.2975C>T or c.3809A>G often presented WD features before 12 years old while the patients with c.3443T>C almost presented WD after 12 years old. 27398169

2016
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs60431989
rs60431989
ATP7B
0.810 GeneticVariation BEFREE In conclusion, we identified three novel mutations and Ile1148Thr as another hotspot mutation in WD patients from Southern China. 25089800

2014
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. 23843956

2013
dbSNP: rs60431989
rs60431989
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 21796144

2011
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. 20333758

2010
dbSNP: rs60431989
rs60431989
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs60431989
rs60431989
ATP7B
G 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: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. 18483695

2008
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). 15523622

2004
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. 14986826

2003
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs60431989
rs60431989
ATP7B
G 0.810 CausalMutation CLINVAR Haplotype and mutation analysis in Greek patients with Wilson disease. 9801873

1999