GCH1, GTP cyclohydrolase 1, 2643

N. diseases: 254; N. variants: 66
Disease: Dystonia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1566658823
rs1566658823 		1.000 0.120 14 54844138 missense variant A/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1566687487
rs1566687487 		14 54902537 frameshift variant -/G delins
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs104894442
rs104894442 		1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999