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 Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs756029120
rs756029120
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: 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 Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. 23275100

2013
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
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
0.800 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
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 GeneticVariation CLINVAR Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 18034201

2008
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 GeneticVariation CLINVAR Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. 23843956

2013
dbSNP: rs756029120
rs756029120
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: 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
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation 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: 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 A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
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 Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
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