GCH1, GTP cyclohydrolase 1, 2643

N. diseases: 254; N. variants: 66
Disease: Dystonia Disorders ×
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: rs104894442
rs104894442 		1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 1999 1999