IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Mucopolysaccharidosis V ×
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: rs121965026
rs121965026 		0.925 0.120 4 1003108 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1993 2015
dbSNP: rs121965029
rs121965029 		0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 10 1993 2019
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 6 1992 2014
dbSNP: rs121965021
rs121965021 		0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1998 1998
dbSNP: rs121965027
rs121965027 		0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs1230234600
rs1230234600 		1.000 0.120 4 1001745 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs754949360
rs754949360 		0.925 0.120 4 1002444 missense variant G/A snv 3.3E-05 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs754966840
rs754966840 		0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs762903007
rs762903007 		0.882 0.120 4 1002435 missense variant A/G snv 1.8E-05 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1992 2013
dbSNP: rs746766617
rs746766617 		0.882 0.120 4 1002340 missense variant C/G snv 4.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs762411583
rs762411583 		0.882 0.120 4 1001672 splice region variant G/A;C snv 4.3E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs780165694
rs780165694 		1.000 0.120 4 987877 missense variant A/G snv 1.2E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726878
rs794726878 		0.925 0.120 4 987137 missense variant T/C snv 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs931627770
rs931627770 		0.925 0.120 4 1002811 missense variant C/A;T snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs991612107
rs991612107 		0.882 0.120 4 1002748 stop gained G/A snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1993 1993