Gene: ATP7B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566468816
rs1566468816
ATP7B
TGGCACTGCCTGGCACT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517384
rs1057517384
ATP7B
TGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516561
rs1057516561
ATP7B
TG 0.700 GeneticVariation CLINVAR Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 16133174

2005
dbSNP: rs1057516561
rs1057516561
ATP7B
TG 0.700 GeneticVariation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 16133174

2005
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 9311736

1997
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. 12557139

2003
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Haplotype and mutation analysis in Greek patients with Wilson disease. 9801873

1999
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 21796144

2011
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity. 24897373

2014
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. 15952988

2005
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. 11216666

2000
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR ATP7B Gene Mutations in Croatian Patients with Wilson Disease. 26799313

2016
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. 16283883

2005
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Mutation analysis of Wilson disease in Taiwan and description of six new mutations. 9829905

1998
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR A study of Wilson disease mutations in Britain. 10502777

1999
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 18034201

2008
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR The Wilson disease gene: spectrum of mutations and their consequences. 7626145

1995
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. 11690702

2001
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. 15024742

2004
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Haplotype and mutation analysis in Japanese patients with Wilson disease. 9199563

1997
dbSNP: rs137853287
rs137853287
ATP7B
TG 0.700 CausalMutation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010