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: rs754995756
rs754995756 		1.000 0.120 7 66081881 missense variant G/A snv 8.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs756363516
rs756363516 		1.000 0.120 7 66086785 missense variant A/G snv 9.4E-06 7.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 2010 2015
dbSNP: rs759396688
rs759396688 		1.000 0.120 7 66092883 missense variant C/A;T snv 2.4E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs761268464
rs761268464 		1.000 0.120 7 66087779 missense variant C/T snv 4.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs767271619
rs767271619 		1.000 0.120 7 66092884 missense variant G/A snv 4.5E-05 2.8E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs769017508
rs769017508 		1.000 0.120 7 66086605 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs773071023
rs773071023 		1.000 0.120 7 66092817 missense variant G/T snv 4.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs777437569
rs777437569 		1.000 0.120 7 66082441 missense variant G/A snv 7.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs868834862
rs868834862 		1.000 0.120 7 66089173 missense variant C/T snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1990 2014
dbSNP: rs145138923
rs145138923 		1.000 0.120 7 66081825 missense variant G/A snv 1.1E-03 1.2E-03
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2001 2016
dbSNP: rs752783461
rs752783461 		1.000 0.120 7 66082926 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2007 2014
dbSNP: rs796051933
rs796051933 		1.000 0.120 7 66089676 frameshift variant GTCATCTCTACGC/- delins 2.8E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 1991 2017
dbSNP: rs751590073
rs751590073 		1.000 0.120 7 66086764 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2002 2014
dbSNP: rs142637046
rs142637046 		1.000 0.120 7 66083175 splice donor variant G/A snv 4.4E-05 7.7E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 1990 2014
dbSNP: rs777235530
rs777235530 		1.000 0.120 7 66083105 missense variant G/A snv 8.0E-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 0.700 1.000 3 2010 2017
dbSNP: rs778254333
rs778254333 		1.000 0.120 7 66086584 splice acceptor variant G/A snv 8.0E-06 2.1E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 1990 2014
dbSNP: rs1329070853
rs1329070853 		1.000 0.120 7 66089677 splice donor variant GTCATCTCTACGCTGCAGGCAAGAC/- delins 7.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs398123126
rs398123126 		1.000 0.120 7 66086763 stop gained C/T snv 8.8E-06 4.9E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2007 2010
dbSNP: rs767543051
rs767543051 		1.000 0.120 7 66082925 missense variant C/T snv 1.3E-04 7.7E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2000 2014
dbSNP: rs869312976
rs869312976 		1.000 0.120 7 66086664 splice donor variant T/A;G snv 4.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2007 2014
dbSNP: rs1554327573
rs1554327573 		1.000 0.120 7 66088823 stop gained G/A snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs369879957
rs369879957 		1.000 0.120 7 66087380 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs398123127
rs398123127 		1.000 0.120 7 66086822 splice donor variant G/A snv 7.0E-06
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs757109353
rs757109353 		1.000 0.120 7 66092772 frameshift variant CT/- del 1.2E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs770375565
rs770375565 		1.000 0.120 7 66082880 stop gained G/T snv 1.2E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014