rs1047891, CPS1

N. diseases: 34
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
fibrinogen activity
CUI: C1325327
Disease: fibrinogen activity
63 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2009 2009
Fibrinogen assay
CUI: C0337428
Disease: Fibrinogen assay
143 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2009 2009
Fibrinogen, CTCAE
CUI: C1561955
Disease: Fibrinogen, CTCAE
63 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2009 2009
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.800 1.000 3 2010 2018
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
33 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.800 1.000 3 2010 2014
High density lipoprotein measurement
1440 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.800 1.000 3 2013 2019
Serum HDL cholesterol measurement
CUI: C0428472
Disease: Serum HDL cholesterol measurement
679 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2013 2013
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
8 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.030 0.667 3 2014 2019
Serum albumin measurement
CUI: C0523465
Disease: Serum albumin measurement
3282 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2014 2014
Finding of Mean Corpuscular Hemoglobin
1206 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 3 2016 2019
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
549 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2016 2018
Amino acids measurement
CUI: C0201874
Disease: Amino acids measurement
92 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
Necrotizing Enterocolitis
CUI: C0520459
Disease: Necrotizing Enterocolitis
7 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2016 2016
Necrotizing enterocolitis in fetus OR newborn
26 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2016 2016
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
Platelet mean volume determination (procedure)
371 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
Protein measurement
CUI: C0202202
Disease: Protein measurement
422 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
1033 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 5 2017 2019
Creatinine measurement, serum (procedure)
243 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2017 2019
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2018 2019
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2018 2019
Alanine aminotransferase measurement
77 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
Albuminuria
CUI: C0001925
Disease: Albuminuria
59 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
Serum Alanine Aminotransferase Measurement
77 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
535 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019