Disease: Mucopolysaccharidosis IV ×
Source: CURATED ×
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: rs118204437
rs118204437 		0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 3 1996 2013
dbSNP: rs118204438
rs118204438 		0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1998 2014
dbSNP: rs144067930
rs144067930 		0.925 0.120 16 88835261 missense variant A/C snv 2.2E-04 1.7E-04
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1998 2014
dbSNP: rs761385192
rs761385192 		0.925 0.120 16 88835743 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1997 2014
dbSNP: rs118204443
rs118204443 		0.882 0.120 16 88832099 missense variant C/A snv 4.4E-05 8.4E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1997 2014
dbSNP: rs772656696
rs772656696 		0.925 0.120 16 88837690 frameshift variant G/- del 2.1E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2014 2014
dbSNP: rs1165218506
rs1165218506 		1.000 0.120 16 88832103 splice acceptor variant T/C;G snv
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004