ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
Disease: Hyperammonemia ×
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: rs367543005
rs367543005 		1.000 0.120 7 66089693 stop gained C/T snv
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018