Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907994
rs121907994
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Mutational analysis of ATP7B in Chinese Wilson disease patients. 27398169

2016
dbSNP: rs121907994
rs121907994
ATP7B
0.810 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs121907994
rs121907994
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: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR 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: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. 22735241

2012
dbSNP: rs121907994
rs121907994
ATP7B
0.810 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs121907994
rs121907994
ATP7B
0.810 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998
dbSNP: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. 10721669

2000
dbSNP: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment. 21707886

2011
dbSNP: rs121907994
rs121907994
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: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs121907994
rs121907994
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: rs121907994
rs121907994
ATP7B
0.810 GeneticVariation BEFREE The R778L, N1270S, and A874V mutations are three major mutations representing approximately 60% of mutated alleles, although Korean patients with Wilson disease are genetically heterogeneous. 12544487

2003
dbSNP: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A). 12544487

2003
dbSNP: rs121907994
rs121907994
ATP7B
0.810 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs121907994
rs121907994
ATP7B
A 0.810 CausalMutation CLINVAR Two families with Wilson disease in which siblings showed different phenotypes. 12376745

2002