IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Mucopolysaccharidosis I ×
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: rs199801029
rs199801029 		0.925 0.120 4 1002275 missense variant G/C snv 6.6E-05 7.7E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1995 2014