IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
Disease: Hunter's syndrome, mild form ×
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: rs199422231
rs199422231 		0.925 0.160 X 149482997 missense variant G/A snv
CUI: C0342842
Disease: Hunter's syndrome, mild form
Hunter's syndrome, mild form 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0