rs1047891, CPS1

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
High density lipoprotein measurement
CUI: C0392885
Disease: High density lipoprotein measurement
0.800 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
High density lipoprotein measurement
CUI: C0392885
Disease: High density lipoprotein measurement
0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.800 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASCAT Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. 24651765 2014
High density lipoprotein measurement
CUI: C0392885
Disease: High density lipoprotein measurement
0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
High density lipoprotein measurement
CUI: C0392885
Disease: High density lipoprotein measurement
0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.800 GeneticVariation GWASDB Genome-wide association and functional follow-up reveals new loci for kidney function. 22479191 2012
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.800 GeneticVariation GWASDB New loci associated with kidney function and chronic kidney disease. 20383146 2010
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASDB Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. 20154341 2010
Glycine measurement
CUI: C0523677
Disease: Glycine measurement
0.700 GeneticVariation GWASCAT Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease. 31070104 2019
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
Creatinine measurement, serum (procedure)
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
Diabetes
CUI: C0011847
Disease: Diabetes
0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
Lean body mass
CUI: C0424678
Disease: Lean body mass
0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Body Height
CUI: C0005890
Disease: Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019