Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. 29649982

2018
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism. 26752957

2016
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. 23486543

2013
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 18371106

2008
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
C 0.700 CausalMutation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
C 0.700 GeneticVariation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006