Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 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: rs756029120
rs756029120
ATP7B
T 0.800 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: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. 20333758

2010
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Identification and analysis of mutations of the Wilson disease gene in Chinese population. 11775208

2000
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. 23275100

2013
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. 23275100

2013
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene. 17317524

2007
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene. 17317524

2007
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. 11405812

2001
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. 11405812

2001