Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease. 22940187

2012
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population. 22170460

2012
dbSNP: rs753594031
rs753594031
ATP7B
0.800 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: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Biochemical staging of the chronic hepatic lesions of Wilson disease. 25130000

2014
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 9311736

1997
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase. 16495228

2006
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. 17587212

2007
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Molecular analysis and diagnosis in Japanese patients with Wilson's disease. 10453196

1999
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs753594031
rs753594031
ATP7B
0.800 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: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs753594031
rs753594031
ATP7B
0.800 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. 10070620

1999
dbSNP: rs753594031
rs753594031
ATP7B
A 0.800 GeneticVariation CLINVAR Haplotype and mutation analysis in Japanese patients with Wilson disease. 9199563

1997