ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
Disease: Argininosuccinic Aciduria ×
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: rs28940585
rs28940585 		1.000 0.120 7 66082443 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 6 1990 2014