NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Lipomucopolysaccharidosis ×
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: rs104893971
rs104893971 		1.000 0.160 6 31859838 stop gained C/A snv
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893979
rs104893979 		0.925 0.160 6 31860117 missense variant G/A snv 4.1E-06
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893983
rs104893983 		0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28940583
rs28940583 		0.882 0.160 6 31860588 missense variant C/T snv 5.6E-05 1.7E-04
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0