Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 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
dbSNP: rs1047891
rs1047891
CPS1
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		A 0.800 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352

2018
dbSNP: rs1047891
rs1047891
CPS1
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		A 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
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		A 0.700 GeneticVariation GWASCAT Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease. 31070104

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0011847
Disease: Diabetes
Diabetes 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018
dbSNP: rs1047891
rs1047891
CPS1
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018