Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. 22692182

2012
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 CausalMutation CLINVAR A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. 22692182

2012
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 CausalMutation CLINVAR ATP7B Gene Mutations in Croatian Patients with Wilson Disease. 26799313

2016
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Clinical presentation and mutations in Danish patients with Wilson disease. 21610751

2011
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 CausalMutation CLINVAR Clinical presentation and mutations in Danish patients with Wilson disease. 21610751

2011
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 9671269

1998
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. 15811015

2005
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 10790207

2000
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia. 23789284

2013
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 CausalMutation CLINVAR Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia. 23789284

2013