GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VI ×
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: 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: 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