ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Disease: Arylsulfatase A Deficiency ×
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: rs2071421
rs2071421 		0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19
CUI: C2713319
Disease: Arylsulfatase A Deficiency
Arylsulfatase A Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999