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: 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
dbSNP: rs28941472
rs28941472 		1.000 0.120 7 66089114 missense variant A/G snv 1.2E-04 1.5E-04
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1990 2015
dbSNP: rs28940286
rs28940286 		1.000 0.120 7 66092566 missense variant C/T snv 7.7E-05 7.0E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1990 2016
dbSNP: rs28940287
rs28940287 		1.000 0.120 7 66092078 missense variant C/G;T snv 4.0E-06; 6.4E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1990 2017
dbSNP: rs28941473
rs28941473 		1.000 0.120 7 66086751 missense variant G/A snv 2.9E-04 3.4E-04
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1990 2015
dbSNP: rs373697663
rs373697663 		1.000 0.120 7 66086797 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 1990 2015
dbSNP: rs761651320
rs761651320 		1.000 0.120 7 66087368 stop gained C/T snv 2.0E-05
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 3 2007 2019
dbSNP: rs367543005
rs367543005 		1.000 0.120 7 66089693 stop gained C/T snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 2 2005 2015
dbSNP: rs367543006
rs367543006 		1.000 0.120 7 66082934 stop gained C/T snv
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs752100894
rs752100894 		1.000 0.120 7 66082420 missense variant A/G snv 8.1E-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 7 1997 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: 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: 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: 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: 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: 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
dbSNP: rs199938613
rs199938613 		1.000 0.120 7 66083164 missense variant C/T snv 2.0E-05 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 6 1990 2014
dbSNP: rs201962738
rs201962738 		1.000 0.120 7 66083104 missense variant C/A;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 6 1990 2014
dbSNP: rs202142867
rs202142867 		1.000 0.120 7 66082887 missense variant T/A;C snv 4.0E-06; 1.2E-04
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 2002 2015
dbSNP: rs373519615
rs373519615 		1.000 0.120 7 66092857 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: rs552951774
rs552951774 		1.000 0.120 7 66087782 missense variant 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 6 1990 2014
dbSNP: rs746120802
rs746120802 		1.000 0.120 7 66092567 missense variant G/A 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 6 1990 2014
dbSNP: rs750431938
rs750431938 		1.000 0.120 7 66089147 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: rs752397242
rs752397242 		1.000 0.120 7 66086776 missense variant G/A snv 1.8E-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