ASS1, argininosuccinate synthase 1, 445

N. diseases: 163; N. variants: 86
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: rs121908640
rs121908640 		1.000 0.120 9 130494983 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 21 1990 2017
dbSNP: rs121908641
rs121908641 		0.882 0.120 9 130499545 missense variant G/A;T snv 3.2E-04; 4.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 21 1990 2017
dbSNP: rs770944877
rs770944877 		1.000 0.120 9 130458575 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1990 2017
dbSNP: rs121908638
rs121908638 		1.000 0.120 9 130470877 missense variant G/A;T snv 4.0E-05; 4.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1990 2017
dbSNP: rs121908644
rs121908644 		1.000 0.120 9 130458482 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1990 2017
dbSNP: rs121908646
rs121908646 		0.925 0.120 9 130470873 missense variant T/C snv 8.7E-05 7.0E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1990 2017
dbSNP: rs371265106
rs371265106 		1.000 0.120 9 130480447 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1990 2017
dbSNP: rs762387914
rs762387914 		1.000 0.120 9 130480425 missense variant C/T snv 4.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1990 2017
dbSNP: rs121908637
rs121908637 		1.000 0.120 9 130466774 missense variant G/A snv 8.0E-05 6.3E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1990 2017
dbSNP: rs121908639
rs121908639 		1.000 0.120 9 130489464 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1990 2017
dbSNP: rs121908647
rs121908647 		0.925 0.120 9 130494981 missense variant G/T snv
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1990 2017
dbSNP: rs777828000
rs777828000 		1.000 0.120 9 130471489 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1990 2017
dbSNP: rs121908636
rs121908636 		1.000 0.120 9 130452268 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs121908642
rs121908642 		1.000 0.120 9 130489404 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs183276875
rs183276875 		1.000 0.120 9 130489413 missense variant C/T snv 1.1E-04 9.8E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs370595480
rs370595480 		1.000 0.120 9 130480416 missense variant G/A snv 5.2E-05 7.0E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs398123131
rs398123131 		1.000 0.120 9 130480405 missense variant G/A snv
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs765338121
rs765338121 		1.000 0.120 9 130489341 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs886039853
rs886039853 		1.000 0.120 9 130489345 missense variant C/T snv 7.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1990 2017
dbSNP: rs1184442048
rs1184442048 		1.000 0.120 9 130466726 missense variant T/G snv
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1990 2017
dbSNP: rs121908643
rs121908643 		1.000 0.120 9 130452281 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1990 2017
dbSNP: rs121908648
rs121908648 		1.000 0.120 9 130489422 missense variant A/C snv 8.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1990 2017
dbSNP: rs138279074
rs138279074 		1.000 0.120 9 130458525 missense variant G/A snv 1.8E-04 1.8E-04
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1990 2017
dbSNP: rs148918985
rs148918985 		1.000 0.120 9 130480404 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1990 2017
dbSNP: rs201623252
rs201623252 		0.925 0.120 9 130464127 missense variant G/A;T snv 4.0E-06 1.4E-05
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1990 2017