Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 9671269

1998
dbSNP: rs746485916
rs746485916
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: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs746485916
rs746485916
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: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs746485916
rs746485916
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: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. 15024742

2004
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. 15205742

2004
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. 15024742

2004
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs746485916
rs746485916
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: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations. 18855987

2008
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. 18203200

2008
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations. 18855987

2008
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. 18203200

2008