Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs988395114
rs988395114
GCH1
T 0.800 CausalMutation CLINVAR Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients. 23211702

2013
dbSNP: rs104894433
rs104894433
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs104894437
rs104894437
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs104894438
rs104894438
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs104894440
rs104894440
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs104894441
rs104894441
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs41298442
rs41298442
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs988395114
rs988395114
GCH1
T 0.800 CausalMutation CLINVAR A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population. 20491893

2011
dbSNP: rs988395114
rs988395114
GCH1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs988395114
rs988395114
GCH1
T 0.800 CausalMutation CLINVAR High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. 20082337

2010
dbSNP: rs988395114
rs988395114
GCH1
T 0.800 CausalMutation CLINVAR GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. 20108370

2010
dbSNP: rs988395114
rs988395114
GCH1
T 0.800 CausalMutation CLINVAR Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 19332422

2009
dbSNP: rs104894433
rs104894433
GCH1
0.800 GeneticVariation UNIPROT Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs104894437
rs104894437
GCH1
0.800 GeneticVariation UNIPROT Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs104894438
rs104894438
GCH1
0.800 GeneticVariation UNIPROT Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs104894440
rs104894440
GCH1
0.800 GeneticVariation UNIPROT Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs104894441
rs104894441
GCH1
0.800 GeneticVariation UNIPROT Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs41298442
rs41298442
GCH1
0.800 GeneticVariation UNIPROT Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs104894433
rs104894433
GCH1
0.800 GeneticVariation UNIPROT Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 12391354

2002
dbSNP: rs104894437
rs104894437
GCH1
0.800 GeneticVariation UNIPROT Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 12391354

2002
dbSNP: rs104894438
rs104894438
GCH1
0.800 GeneticVariation UNIPROT Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 12391354

2002
dbSNP: rs104894440
rs104894440
GCH1
0.800 GeneticVariation UNIPROT Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 12391354

2002
dbSNP: rs104894441
rs104894441
GCH1
0.800 GeneticVariation UNIPROT Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 12391354

2002
dbSNP: rs41298442
rs41298442
GCH1
0.800 GeneticVariation UNIPROT Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 12391354

2002
dbSNP: rs988395114
rs988395114
GCH1
T 0.800 CausalMutation CLINVAR A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. 11486899

2001