IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
Disease: Mucopolysaccharidosis II ×
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: rs113993946
rs113993946 		0.925 0.160 X 149482996 missense variant C/A;G;T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.810 1.000 11 1993 2015
dbSNP: rs104894853
rs104894853 		1.000 0.160 X 149490322 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 22 1992 2014
dbSNP: rs104894856
rs104894856 		1.000 0.160 X 149500977 missense variant G/C;T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 22 1992 2014
dbSNP: rs104894861
rs104894861 		1.000 0.160 X 149503326 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 22 1992 2014
dbSNP: rs193302911
rs193302911 		1.000 0.160 X 149503371 missense variant G/T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 22 1992 2014
dbSNP: rs199422231
rs199422231 		0.925 0.160 X 149482997 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 9 1992 2017
dbSNP: rs1557340280
rs1557340280 		1.000 0.160 X 149503473 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 6 1995 2017
dbSNP: rs113993949
rs113993949 		1.000 0.160 X 149503477 missense variant C/T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs199422228
rs199422228 		1.000 0.160 X 149482894 missense variant C/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs199422229
rs199422229 		1.000 0.160 X 149483135 missense variant A/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs398123249
rs398123249 		1.000 0.160 X 149503468 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs864622773
rs864622773 		1.000 0.160 X 149482966 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs864622779
rs864622779 		1.000 0.160 X 149498202 missense variant C/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs199422227
rs199422227 		1.000 0.160 X 149483072 stop gained G/A;T snv 1.7E-05
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.710 1.000 6 1992 2016
dbSNP: rs61736892
rs61736892 		1.000 0.160 X 149498174 missense variant G/A snv 4.0E-03 1.5E-02
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.710 1.000 1 2011 2011
dbSNP: rs145807417
rs145807417 		1.000 0.160 X 149490395 missense variant T/C snv 1.3E-03 4.8E-03
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 20 1992 2006
dbSNP: rs146458524
rs146458524 		1.000 0.160 X 149496471 missense variant C/A;T snv 1.6E-05; 3.1E-03
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 20 1992 2006
dbSNP: rs193302905
rs193302905 		1.000 0.160 X 149498129 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 20 1992 2006
dbSNP: rs193302909
rs193302909 		1.000 0.160 X 149504210 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 20 1992 2006
dbSNP: rs201048643
rs201048643 		1.000 0.160 X 149490383 missense variant G/A snv 9.8E-05 5.7E-05
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 20 1992 2006
dbSNP: rs398123250
rs398123250 		1.000 0.160 X 149498228 missense variant A/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 20 1992 2006
dbSNP: rs113993948
rs113993948 		1.000 0.160 X 149486983 synonymous variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 6 1996 2015
dbSNP: rs886044835
rs886044835 		1.000 0.160 X 149483134 missense variant C/A;T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 6 1992 2017
dbSNP: rs1557338581
rs1557338581 		1.000 0.160 X 149490314 missense variant C/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 5 1996 2014
dbSNP: rs104894860
rs104894860 		1.000 0.160 X 149498301 stop gained G/A;T snv 5.5E-06
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 4 1992 2014