Gene: ATP7B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. 30087448

2018
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease. 24878384

2014
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
T 0.800 GeneticVariation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs1038582488
rs1038582488
ATP7B
T 0.800 GeneticVariation CLINVAR Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children. 24146181

2013
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
T 0.800 GeneticVariation CLINVAR Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations. 25089800

2014
dbSNP: rs1038582488
rs1038582488
ATP7B
T 0.800 GeneticVariation CLINVAR Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. 21219664

2011
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
T 0.800 GeneticVariation CLINVAR Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease. 26483271

2016
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs1038582488
rs1038582488
ATP7B
T 0.800 GeneticVariation CLINVAR Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 21796144

2011