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: 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: 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: 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: 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
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: rs1434169374
rs1434169374 		0.925 0.120 7 65974349 stop gained C/T snv 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 0.010 1.000 1 1998 1998
dbSNP: rs531607427
rs531607427 		1.000 0.120 7 65974942 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 0.010 1.000 1 2005 2005
dbSNP: rs73148102
rs73148102 		7 65973877 intron variant G/A snv 0.14
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs73148102
rs73148102 		7 65973877 intron variant G/A snv 0.14
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs786205671
rs786205671 		1.000 0.200 7 65979910 missense variant C/G snv
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs786205674
rs786205674 		1.000 0.200 7 65967798 missense variant T/C snv
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: rs763043756
rs763043756 		1.000 0.120 7 65974425 missense variant C/A;T snv 4.0E-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 0.010 1.000 1 2005 2005
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: 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: 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: 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: 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