Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1418922853
rs1418922853
GCH1
T 0.700 GeneticVariation CLINVAR Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. 20842687

2011
dbSNP: rs1418922853
rs1418922853
GCH1
T 0.700 GeneticVariation CLINVAR GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. 15303002

2004
dbSNP: rs1418922853
rs1418922853
GCH1
T 0.700 GeneticVariation CLINVAR Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. 10496263

1999