Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR Frequency of GCH1 deletions in Dopa-responsive dystonia. 17898029

2008
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893

2006
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. 15753436

2005
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894435
rs104894435
GCH1
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894435
rs104894435
GCH1
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255

1995