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.
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
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
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