Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778490238
rs778490238
ATP7B
A 0.700 GeneticVariation CLINVAR Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543

2012
dbSNP: rs778490238
rs778490238
ATP7B
A 0.700 GeneticVariation CLINVAR Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. 16283883

2005