rs104894442, GCH1

N. diseases: 3
Disease: Dystonia Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.010 GeneticVariation BEFREE We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient. 10987649 1999