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: 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: 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: rs113993946
rs113993946 		0.925 0.160 X 149482996 missense variant C/A;G;T snv
CUI: C0342841
Disease: Hunter's syndrome, severe form
Hunter's syndrome, severe form 		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: rs113993952
rs113993952 		1.000 0.160 X 149503494 splice region 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: 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: rs113993954
rs113993954 		1.000 0.160 X 149504185 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: rs113993955
rs113993955 		1.000 0.160 X 149504216 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 0
dbSNP: rs1557338127
rs1557338127 		1.000 0.160 X 149486999 stop gained G/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 0
dbSNP: rs1557338131
rs1557338131 		1.000 0.160 X 149487006 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: 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: rs1557340403
rs1557340403 		1.000 0.160 X 149504201 stop gained 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: rs1557340558
rs1557340558 		1.000 0.160 X 149505035 splice acceptor variant CTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCT/- del
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: rs193302906
rs193302906 		1.000 0.160 X 149487072 missense variant 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 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: 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
dbSNP: rs193302910
rs193302910 		1.000 0.160 X 149503329 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: 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: 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: rs199422230
rs199422230 		1.000 0.160 X 149482974 stop gained 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: rs199422231
rs199422231 		0.925 0.160 X 149482997 missense variant G/A snv
CUI: C0342842
Disease: Hunter's syndrome, mild form
Hunter's syndrome, mild form 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
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: rs483352905
rs483352905 		1.000 0.160 X 149503379 inframe deletion GAG/- 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: rs781997631
rs781997631 		1.000 0.160 X 149504206 missense variant A/G;T snv 5.6E-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 0
dbSNP: rs864622771
rs864622771 		1.000 0.160 X 149487089 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 0