Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. 30087448

2018
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease. 24878384

2014
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.700 GeneticVariation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014