ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Disease: Leukodystrophy ×
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: rs74315475
rs74315475 		0.851 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0