ASS1, argininosuccinate synthase 1, 445

N. diseases: 163; N. variants: 86
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete ×
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: rs121908641
rs121908641 		0.882 0.120 9 130499545 missense variant G/A;T snv 3.2E-04; 4.0E-06
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017