ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder) ×
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: rs28940893
rs28940893 		0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2006 2006
dbSNP: rs74315457
rs74315457 		0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2006 2006
dbSNP: rs121434215
rs121434215 		0.925 0.120 22 50627221 missense variant A/G snv
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28940894
rs28940894 		0.925 0.120 22 50626271 missense variant T/G snv 8.1E-05 2.1E-05
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28940895
rs28940895 		0.925 0.120 22 50625446 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315455
rs74315455 		0.925 0.120 22 50627329 missense variant C/A;T snv 1.5E-05; 1.5E-05
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338815
rs80338815 		0.882 0.120 22 50627165 splice donor variant C/T snv 6.5E-04 4.5E-04
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0