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: 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: 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: 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: rs774393243
rs774393243 		1.000 0.120 7 65970329 missense variant G/A snv 2.0E-05
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1991 2003
dbSNP: rs121918180
rs121918180 		1.000 0.120 7 65974348 stop gained C/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 0.710 1.000 1 1998 1998
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
dbSNP: rs751025746
rs751025746 		1.000 0.120 7 65974526 missense variant G/A snv 2.0E-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 0.700 1.000 13 1991 2003
dbSNP: rs764018631
rs764018631 		1.000 0.120 7 65974625 missense variant C/A;G;T 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 0.700 1.000 13 1991 2003
dbSNP: rs771629102
rs771629102 		1.000 0.120 7 65974679 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 0.700 1.000 13 1991 2003
dbSNP: rs777613366
rs777613366 		1.000 0.120 7 65960977 missense variant A/G snv 4.0E-06; 4.0E-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: rs779091113
rs779091113 		1.000 0.120 7 65974548 missense variant G/A snv 1.2E-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 1.000 13 1991 2003
dbSNP: rs121918181
rs121918181 		0.882 0.120 7 65979782 missense variant G/A snv 5.6E-05 7.0E-05
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2018
dbSNP: rs121918185
rs121918185 		0.925 0.280 7 65974701 stop gained G/A snv 2.4E-05 2.1E-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 6 1993 2015
dbSNP: rs121918179
rs121918179 		1.000 0.120 7 65967863 stop gained C/T snv 8.2E-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 4 1995 2013
dbSNP: rs1434169374
rs1434169374 		0.925 0.120 7 65974349 stop gained C/T snv 1.4E-05
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1998 2009