IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Glycogen Storage Disease ×
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: rs121965021
rs121965021 		0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014