GCH1, GTP cyclohydrolase 1, 2643

N. diseases: 254; N. variants: 66
Disease: Muscle Weakness ×
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: rs1555358382
rs1555358382 		14 54844115 stop gained G/A snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0