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.
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
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
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
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
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
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
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
1463 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
1322 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
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
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