NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: Mucopolysaccharidosis Type IIIA ×
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: rs659497
rs659497 		1.000 0.120 17 42537437 synonymous variant T/C snv 0.99 0.99
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs86312
rs86312 		0.925 0.120 17 42544215 missense variant C/A;G;T snv 1.8E-02; 0.91; 8.1E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019