Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555358507
rs1555358507
GCH1
T 0.700 CausalMutation CLINVAR Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146

2009
dbSNP: rs1555358507
rs1555358507
GCH1
T 0.700 CausalMutation CLINVAR Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs1555358507
rs1555358507
GCH1
T 0.700 CausalMutation CLINVAR Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. 9749603

1998