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: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 5 2017 2019
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: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.800 1.000 3 2010 2014
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 3 2016 2019
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: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2016 2018
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2017 2019
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 2 2019 2019
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 2 2015 2019
dbSNP: rs7422339
rs7422339 		1.000 0.080 2 210675783 missense variant C/A snv
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.700 1.000 2 2010 2013
dbSNP: rs7422339
rs7422339 		1.000 0.080 2 210675783 missense variant C/A snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2010 2016
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2009 2009
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2009 2009
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019