Gene: ATP7B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs996419100
rs996419100
ATP7B
A 0.700 GeneticVariation CLINVAR EGFP tags affect cellular localization of ATP7B mutants. 23607698

2013
dbSNP: rs996419100
rs996419100
ATP7B
A 0.700 GeneticVariation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs911589273
rs911589273
ATP7B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886042519
rs886042519
ATP7B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs879255499
rs879255499
ATP7B ; ALG11
G 0.700 CausalMutation CLINVAR Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs867107727
rs867107727
ATP7B
0.700 GeneticVariation UNIPROT

dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation BEFREE A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. 17949296

2007
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs797045402
rs797045402
ATP7B
T 0.810 GeneticVariation CLINVAR

dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs797045402
rs797045402
ATP7B
0.810 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: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs797045402
rs797045402
ATP7B
0.810 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: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs797045402
rs797045402
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011