rs715

This is a 3 prime utr variant variant in the CPS1 gene.

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GWAS Catalog Trait Associations (62)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

glycine measurement

Wittemans LBL et al. “Assessing the causal association of glycine with risk of cardio-metabolic diseases.” Nature Communications 10(1):1060 (2019)
Allele C
OR 0.44
p —
N 80,003
Large GWAS
European
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 86.63
p —
N 80,003
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele C
OR —
β 0.076
p 2.0e-147
N 7,802
Large GWAS
European

serine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 19.41
p 6.0e-84
N 30,955
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele C
OR —
β 0.022
p 3.0e-21
N 7,796
Large GWAS
European
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele C
OR —
β 0.031
p 3.0e-11
N 7,478
Large GWAS
European

glycine measurement, amino acid measurement

Imaizumi A et al. “Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.” European Journal of Human Genetics : Ejhg 27(4):621-630 (2019)
Allele T
OR 0.72
p 2.0e-75
N 1,338
Large GWAS
East Asian

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.33
p 1.0e-74
N 4,911
Large GWAS
European

N-acetylglycine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.091
p 7.0e-58
N 7,135
Large GWAS
European

hexanoylglycine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.36
p 7.0e-44
N 3,471
Large GWAS
multi-ancestry

tyrosine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 5.0e-35
N 450,015
Large GWAS
multi-ancestry
Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele C
OR 0.03
p 3.0e-12
N 117,944
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.03
p 7.0e-12
N 114,913
Large GWAS
European

X-08988 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.033
p 7.0e-35
N 7,776
Large GWAS
European

urate measurement

Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele T
OR 0.02
p 1.0e-32
N 454,183
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Congenital hyperammonemia, type I

View on ClinVar →

About CPS1

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

View all CPS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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