NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Sialidase deficiency ×
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: rs104893972
rs104893972 		1.000 0.160 6 31862079 missense variant A/C snv
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 9 1996 2014
dbSNP: rs104893978
rs104893978 		0.925 0.160 6 31860519 missense variant A/G snv 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 9 1996 2014
dbSNP: rs104893980
rs104893980 		1.000 0.160 6 31860563 missense variant C/A;G;T snv 8.0E-06; 4.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 9 1996 2014
dbSNP: rs104893981
rs104893981 		1.000 0.160 6 31860170 missense variant G/A;C snv 4.1E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 9 1996 2014
dbSNP: rs104893985
rs104893985 		0.925 0.160 6 31862112 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 9 1996 2014
dbSNP: rs193922915
rs193922915 		0.925 0.160 6 31859879 missense variant A/G snv 7.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs104893983
rs104893983 		0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 10 1996 2014
dbSNP: rs104893977
rs104893977 		1.000 0.160 6 31860458 missense variant A/T snv 1.2E-05 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs104893979
rs104893979 		0.925 0.160 6 31860117 missense variant G/A snv 4.1E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs28940583
rs28940583 		0.882 0.160 6 31860588 missense variant C/T snv 5.6E-05 1.7E-04
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs534846786
rs534846786 		1.000 0.160 6 31860081 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs754068739
rs754068739 		1.000 0.160 6 31860581 missense variant C/G;T snv 4.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs762400331
rs762400331 		1.000 0.160 6 31860545 missense variant A/T snv 4.0E-06 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs769765227
rs769765227 		0.925 0.160 6 31860558 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014
dbSNP: rs104893984
rs104893984 		1.000 0.160 6 31862690 stop gained C/G;T snv 8.2E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893986
rs104893986 		1.000 0.160 6 31862708 stop gained C/T snv
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1310267862
rs1310267862 		1.000 0.160 6 31859858 missense variant T/C snv 4.1E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs190549838
rs190549838 		1.000 0.160 6 31860183 missense variant G/A;T snv 4.1E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123392
rs398123392 		0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746607723
rs746607723 		0.925 0.320 6 31859797 stop gained G/A;C;T snv 4.5E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs749996046
rs749996046 		1.000 0.160 6 31860059 missense variant G/C;T snv 4.1E-06; 4.1E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751458617
rs751458617 		1.000 0.160 6 31860042 stop gained G/A;C snv 8.1E-06; 2.0E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864309513
rs864309513 		0.925 0.320 6 31861452 splice acceptor variant T/C;G snv
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0