ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Disease: Metachromatic leukodystrophy, juvenile type ×
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: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 1995 1995
dbSNP: rs74315457
rs74315457 		0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315485
rs74315485 		0.925 0.120 22 50625396 missense variant G/A;T snv
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		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: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338820
rs80338820 		0.925 0.120 22 50625578 splice donor variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0