Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894445
rs104894445
GCH1
T 0.800 CausalMutation CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466

2017
dbSNP: rs104894445
rs104894445
GCH1
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894445
rs104894445
GCH1
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255

1995