Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566687244
rs1566687244
GCH1
T 0.700 GeneticVariation CLINVAR High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. 15753436

2005
dbSNP: rs1566687244
rs1566687244
GCH1
T 0.700 GeneticVariation CLINVAR A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia. 10457396

1999