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: rs762411583
rs762411583 		0.882 0.120 4 1001672 splice region variant G/A;C snv 4.3E-06
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 1 1993 1993
dbSNP: rs387906504
rs387906504 		0.925 0.120 4 1004391 stop lost T/G snv
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 0
dbSNP: rs779762183
rs779762183 		0.925 0.120 4 1002063 protein altering variant -/CCCCCATTTACA delins 9.5E-06 7.0E-06
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 5 1998 2013
dbSNP: rs398123260
rs398123260 		1.000 0.120 4 987119 inframe insertion TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC delins 4.9E-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 6 1994 2012