IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
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: 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: rs193302912
rs193302912 		1.000 0.160 X 149490385 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 0.700 0
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: rs193302913
rs193302913 		1.000 0.160 X 149490411 frameshift variant AG/- delins
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 0
dbSNP: rs113993953
rs113993953 		1.000 0.160 X 149490436 missense variant T/A;C snv 1.6E-04
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 0
dbSNP: rs193302907
rs193302907 		1.000 0.160 X 149496405 stop gained 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 0
dbSNP: rs1085308006
rs1085308006 		1.000 0.160 X 149496419 missense variant T/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 0
dbSNP: rs869025305
rs869025305 		1.000 0.160 X 149496458 frameshift variant ACCTCGGGATCGGG/- delins
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 0
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: rs864622778
rs864622778 		1.000 0.160 X 149498106 splice donor 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 0.700 0
dbSNP: rs1569560489
rs1569560489 		1.000 0.160 X 149498113 stop gained 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 0.700 1.000 1 1996 1996
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: rs113993945
rs113993945 		1.000 0.160 X 149498132 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 0.700 0
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: 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: rs193302904
rs193302904 		1.000 0.160 X 149498223 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 0.700 1.000 1 2014 2014
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: 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
dbSNP: rs483352904
rs483352904 		1.000 0.160 X 149498305 frameshift variant GT/- delins
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 0
dbSNP: rs113993947
rs113993947 		1.000 0.160 X 149498308 splice acceptor variant C/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 0.700 0
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: rs1557339887
rs1557339887 		1.000 0.160 X 149500978 inframe deletion GAT/- delins
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 0
dbSNP: rs864622774
rs864622774 		1.000 0.160 X 149500987 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 0.700 0
dbSNP: rs869025304
rs869025304 		1.000 0.160 X 149500992 frameshift variant AA/CCAGCTATACGG delins
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 0
dbSNP: rs193302908
rs193302908 		1.000 0.160 X 149501031 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 0.700 0