CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
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: rs1553512642
rs1553512642 		1.000 0.120 2 210602254 missense variant G/A snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 19 1998 2016
dbSNP: rs1553513429
rs1553513429 		1.000 0.120 2 210608544 missense variant G/C snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 1998 2017
dbSNP: rs121912592
rs121912592 		1.000 0.120 2 210600636 missense variant C/A;T snv 8.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs121912595
rs121912595 		1.000 0.120 2 210640045 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs1553513864
rs1553513864 		1.000 0.120 2 210612154 missense variant A/G snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs28940283
rs28940283 		1.000 0.120 2 210591893 missense variant A/G snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs772497399
rs772497399 		1.000 0.120 2 210595535 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2013 2019
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 2010 2018
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.800 1.000 3 2010 2014
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 3 2013 2017
dbSNP: rs1015051007
rs1015051007 		1.000 0.120 2 210612273 missense variant C/A;T snv 1.2E-05
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1048119191
rs1048119191 		1.000 0.120 2 210602271 missense variant G/C snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1202306773
rs1202306773 		1.000 0.120 2 210675798 missense variant C/T snv 4.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1275599086
rs1275599086 		1.000 0.120 2 210605148 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1388955593
rs1388955593 		1.000 0.120 2 210637746 missense variant G/A snv 7.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1392559810
rs1392559810 		1.000 0.120 2 210647986 missense variant C/G;T snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1392934477
rs1392934477 		1.000 0.120 2 210675738 missense variant C/T snv 8.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1404696893
rs1404696893 		1.000 0.120 2 210642517 missense variant C/T snv 4.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs141373204
rs141373204 		1.000 0.120 2 210656609 missense variant A/G snv 1.6E-03 1.2E-03
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs142693704
rs142693704 		1.000 0.120 2 210605183 missense variant G/A;T snv 4.0E-06; 3.4E-04
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1437651658
rs1437651658 		1.000 0.120 2 210642589 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs149518280
rs149518280 		1.000 0.120 2 210656574 missense variant C/T snv 4.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs149930500
rs149930500 		1.000 0.120 2 210591955 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1553509297
rs1553509297 		1.000 0.120 2 210576368 missense variant C/T snv
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1998 2016