Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. 28087438

2017
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010