Disease: Mucopolysaccharidosis, MPS-IV-A ×
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: rs146093755
rs146093755 		1.000 0.120 16 88840999 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 15 1992 2014
dbSNP: rs755832705
rs755832705 		1.000 0.120 16 88856771 missense variant A/C snv 2.6E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 13 1992 2014
dbSNP: rs1028668536
rs1028668536 		0.925 0.120 16 88841948 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 12 1992 2014
dbSNP: rs267606838
rs267606838 		1.000 0.120 16 88826822 missense variant C/T snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 12 1992 2014
dbSNP: rs749578474
rs749578474 		1.000 0.120 16 88824790 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 12 1992 2014
dbSNP: rs770053354
rs770053354 		1.000 0.120 16 88835251 missense variant G/A snv 1.7E-05 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 12 1992 2014
dbSNP: rs145798311
rs145798311 		1.000 0.120 16 88842769 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 12 1992 2019
dbSNP: rs118204438
rs118204438 		0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 7 1995 2014
dbSNP: rs1168278189
rs1168278189 		1.000 0.120 16 88837740 missense variant G/A snv 4.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1204485789
rs1204485789 		1.000 0.120 16 88818039 missense variant G/A snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1209154325
rs1209154325 		1.000 0.120 16 88842711 missense variant G/A snv 4.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1221167717
rs1221167717 		1.000 0.120 16 88824852 missense variant C/T snv 2.1E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1283377907
rs1283377907 		1.000 0.120 16 88842829 missense variant T/A snv 1.2E-05 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1296755011
rs1296755011 		1.000 0.120 16 88842799 missense variant C/T snv 4.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1303492021
rs1303492021 		1.000 0.120 16 88814510 missense variant C/T snv 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1401175486
rs1401175486 		1.000 0.120 16 88818009 missense variant T/A;C snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs141340188
rs141340188 		1.000 0.120 16 88841965 missense variant G/A;T snv 8.2E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs142822371
rs142822371 		1.000 0.120 16 88822706 missense variant A/G snv 9.2E-04 9.2E-04
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs1444754604
rs1444754604 		1.000 0.120 16 88841068 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs150734270
rs150734270 		1.000 0.120 16 88826714 missense variant C/T snv 1.8E-03 1.7E-03
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs200763834
rs200763834 		1.000 0.120 16 88824869 missense variant C/G snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs373739301
rs373739301 		1.000 0.120 16 88824847 missense variant C/G;T snv 8.0E-06 1.4E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs398123430
rs398123430 		1.000 0.120 16 88824834 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs398123432
rs398123432 		1.000 0.120 16 88822599 missense variant A/T snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014
dbSNP: rs398123433
rs398123433 		1.000 0.120 16 88814488 missense variant C/A snv 1.4E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 12 1992 2014