ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
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: rs1057141162
rs1057141162 		1.000 0.120 7 66086758 missense variant T/G snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1161412459
rs1161412459 		1.000 0.120 7 66089158 missense variant G/C snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1180650883
rs1180650883 		1.000 0.120 7 66086647 missense variant G/A 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 0
dbSNP: rs1268519003
rs1268519003 		1.000 0.120 7 66083176 splice donor variant T/C 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 0
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: rs1348290958
rs1348290958 		1.000 0.120 7 66083162 missense variant A/G snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1369337876
rs1369337876 		1.000 0.120 7 66089141 missense variant T/C 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 0
dbSNP: rs138310841
rs138310841 		1.000 0.120 7 66082919 missense variant C/T snv 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 0
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: rs1428029508
rs1428029508 		1.000 0.120 7 66086796 missense variant C/A;T snv 4.9E-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: rs143508372
rs143508372 		1.000 0.120 7 66086790 missense variant C/G;T snv 4.8E-06; 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 0
dbSNP: rs1449589636
rs1449589636 		1.000 0.120 7 66087369 missense variant G/A snv 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 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: rs149057077
rs149057077 		1.000 0.120 7 66088855 missense variant T/C snv 2.0E-05 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 6 1990 2014
dbSNP: rs150244667
rs150244667 		1.000 0.120 7 66082444 missense variant G/A snv 1.2E-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: rs1554326239
rs1554326239 		1.000 0.120 7 66081802 splice acceptor variant G/C snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554326263
rs1554326263 		1.000 0.120 7 66081883 frameshift variant CGGCACC/- delins
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554326267
rs1554326267 		1.000 0.120 7 66081900 frameshift variant GGATGTTCAAGGCAGCAAAGCCT/- delins
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554326365
rs1554326365 		1.000 0.120 7 66082443 frameshift variant CGC/GGCG delins
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554327181
rs1554327181 		1.000 0.120 7 66087361 frameshift variant GTGGACCGAGAGCTGCT/- delins
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554327272
rs1554327272 		1.000 0.120 7 66087759 missense variant G/C 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: 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: rs1554327586
rs1554327586 		1.000 0.120 7 66088873 missense variant T/C 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: rs1554327825
rs1554327825 		1.000 0.120 7 66089696 splice donor variant G/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 0
dbSNP: rs1554328202
rs1554328202 		1.000 0.120 7 66092045 missense variant A/G 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