Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566598496
rs1566598496
G 0.700 CausalMutation 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: rs1566598496
rs1566598496
G 0.700 CausalMutation CLINVAR Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999