Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374628199
rs374628199
ATP7B
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs374628199
rs374628199
ATP7B
0.700 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs374628199
rs374628199
ATP7B
0.700 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008