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.
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
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
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
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
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
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
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
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
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
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
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
Blood urea nitrogen measurement
CUI: C0005845
Disease: Blood urea nitrogen measurement
174 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
Body Height
CUI: C0005890
Disease: Body Height
3972 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2019 2019
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
Glycine measurement
CUI: C0523677
Disease: Glycine measurement
68 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
Lean body mass
CUI: C0424678
Disease: Lean body mass
211 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
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