Gene: ATP7B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs1038582488
rs1038582488
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: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs1038582488
rs1038582488
ATP7B
0.800 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs1038582488
rs1038582488
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: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543

2012
dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Behavioural and psychiatric disorders in paediatric Wilson's disease. 22687675

2011
dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Wilson disease in offspring of affected patients: report of four French families. 23567103

2013
dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs1052485948
rs1052485948
ATP7B
0.700 GeneticVariation UNIPROT

dbSNP: rs1057516227
rs1057516227
ATP7B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516228
rs1057516228
ATP7B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516305
rs1057516305
ATP7B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516380
rs1057516380
ATP7B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516418
rs1057516418
ATP7B
TA 0.700 GeneticVariation CLINVAR Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs1057516425
rs1057516425
ATP7B
T 0.700 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: rs1057516425
rs1057516425
ATP7B
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1057516479
rs1057516479
ATP7B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516516
rs1057516516
ATP7B
A 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