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

2013