Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Wilson disease in offspring of affected patients: report of four French families. 23567103

2013
dbSNP: rs1045194246
rs1045194246
ATP7B
T 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: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Behavioural and psychiatric disorders in paediatric Wilson's disease. 22687675

2011
dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 GeneticVariation CLINVAR Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs1045194246
rs1045194246
ATP7B
T 0.700 CausalMutation CLINVAR