Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%). 12885331

2003
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation BEFREE The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%). 12885331

2003
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 CausalMutation CLINVAR The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%). 12885331

2003
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 10790207

2000
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 GeneticVariation CLINVAR Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 9671269

1998
dbSNP: rs201497300
rs201497300
ATP7B
0.820 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: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
dbSNP: rs201497300
rs201497300
ATP7B
0.820 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs201497300
rs201497300
ATP7B
T 0.820 CausalMutation CLINVAR Recombinant subunit vaccines from yeast. 2679931

1989