Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7422339
rs7422339
CPS1
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199

2016
dbSNP: rs7422339
rs7422339
CPS1
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199

2016
dbSNP: rs7422339
rs7422339
CPS1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199

2016
dbSNP: rs7422339
rs7422339
CPS1
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		A 0.700 GeneticVariation GWASCAT Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729

2013
dbSNP: rs7422339
rs7422339
CPS1
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146

2010
dbSNP: rs7422339
rs7422339
CPS1
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		A 0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146

2010
dbSNP: rs7422339
rs7422339
CPS1
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		A 0.700 GeneticVariation GWASCAT The most strongly associated single-nucleotide polymorphism (SNP) (rs7422339, P = 4.7 x 10(-13)) encodes Thr1405Asn in the gene CPS1 and explained 3.0% of variation in the Hcy level. 20154341

2010
dbSNP: rs7422339
rs7422339
CPS1
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		A 0.700 GeneticVariation GWASCAT Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. 20031577

2009