GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
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: rs1238361161
rs1238361161 		1.000 0.120 7 65982080 stop gained G/T snv
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1451709678
rs1451709678 		1.000 0.120 7 65976034 missense variant G/A snv 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs191153460
rs191153460 		1.000 0.120 7 65974933 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs377519272
rs377519272 		1.000 0.120 7 65967767 synonymous variant G/A snv 3.2E-05 4.2E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123234
rs398123234 		1.000 0.120 7 65974686 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587779400
rs587779400 		1.000 0.120 7 65979778 missense variant G/A snv
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs747572640
rs747572640 		1.000 0.120 7 65974650 missense variant G/A;C snv 8.0E-06; 8.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs747792546
rs747792546 		1.000 0.120 7 65982096 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs779499448
rs779499448 		1.000 0.120 7 65982072 missense variant A/C;G snv 4.2E-06; 4.2E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786200863
rs786200863 		1.000 0.120 7 65973676 intron variant GA/- del
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886044680
rs886044680 		1.000 0.120 7 65975025 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918172
rs121918172 		1.000 0.120 7 65960997 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 14 1991 2003
dbSNP: rs121918181
rs121918181 		0.882 0.120 7 65979782 missense variant G/A snv 5.6E-05 7.0E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.820 1.000 14 1991 2003
dbSNP: rs121918173
rs121918173 		0.925 0.280 7 65974626 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918174
rs121918174 		1.000 0.120 7 65979477 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918175
rs121918175 		1.000 0.120 7 65974923 missense variant G/A snv 8.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918176
rs121918176 		1.000 0.120 7 65961022 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918177
rs121918177 		1.000 0.120 7 65979866 missense variant G/A snv
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918178
rs121918178 		1.000 0.120 7 65967900 missense variant T/C snv 4.1E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918182
rs121918182 		1.000 0.120 7 65974934 missense variant C/G;T snv 3.2E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918183
rs121918183 		1.000 0.120 7 65964382 missense variant C/A snv
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918184
rs121918184 		1.000 0.120 7 65960972 missense variant C/A snv 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs1250112198
rs1250112198 		1.000 0.120 7 65961033 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 13 1991 2003
dbSNP: rs1417426295
rs1417426295 		1.000 0.120 7 65979902 missense variant C/T snv 7.0E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 13 1991 2003
dbSNP: rs1424546265
rs1424546265 		1.000 0.120 7 65982029 missense variant G/A snv 8.3E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 13 1991 2003