Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917763
rs121917763
TH
0.030 GeneticVariation BEFREE The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism. 10661862

1999
dbSNP: rs121917763
rs121917763
TH
0.030 GeneticVariation BEFREE Leu205Pro polymorphism is a rare mutation that is reported to cause Parkinsonism in infancy for individuals who are homozygous for the mutated type. 9613851

1998
dbSNP: rs121917763
rs121917763
TH
0.030 GeneticVariation BEFREE Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996