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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen 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: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		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: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1509820
rs1509820 		2 210521760 intron variant G/A snv 0.40
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs187097936
rs187097936 		2 210498225 intron variant C/G snv 3.5E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2013 2013
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2013 2013
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs7422339
rs7422339 		1.000 0.080 2 210675783 missense variant C/A snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs7422339
rs7422339 		1.000 0.080 2 210675783 missense variant C/A snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2009 2009
dbSNP: rs121912594
rs121912594 		0.882 0.160 2 210675762 missense variant A/C snv
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1414143303
rs1414143303 		1.000 0.120 2 210660512 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1553509010
rs1553509010 		1.000 0.120 2 210573379 frameshift variant -/AAGTGGTT delins
CUI: C3714958
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1047891
rs1047891 		0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs121912594
rs121912594 		0.882 0.160 2 210675762 missense variant A/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs715
rs715 		1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121912594
rs121912594 		0.882 0.160 2 210675762 missense variant A/C snv
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs121912594
rs121912594 		0.882 0.160 2 210675762 missense variant A/C snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007