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.
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
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
High density lipoprotein measurement
CUI: C0392885
Disease: 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
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: 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
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