{{Rsnum
|rsid=1047891
|Gene=CPS1
|Chromosome=2
|position=210675783
|Orientation=plus
|GMAF=0.2681
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=CPS1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 7.1 | 45.1 | 47.8
| HCB | 4.5 | 22.4 | 73.1
| JPT | 0.9 | 30.4 | 68.8
| YRI | 10.2 | 37.4 | 52.4
| ASW | 12.3 | 49.1 | 38.6
| CHB | 4.5 | 22.4 | 73.1
| CHD | 0.9 | 23.9 | 75.2
| GIH | 8.0 | 38.0 | 54.0
| LWK | 8.2 | 50.0 | 41.8
| MEX | 8.8 | 50.9 | 40.4
| MKK | 7.7 | 41.0 | 51.3
| TSI | 10.8 | 44.1 | 45.1
| HapMapRevision=28
}}{{PMID Auto
|PMID=19525478
|Title=Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=20031577
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20031578
|Title=Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=20154341
|Title=Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.
|OA=1
}}

{{PMID Auto
|PMID=20383146
|Title=New loci associated with kidney function and chronic kidney disease.
|OA=1
}}

{{PMID Auto
|PMID=21821508
|Title=Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis.
}}{{GET Evidence
|gene=CPS1
|aa_change=Thr1406Asn
|aa_change_short=T1406N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1047891
|overall_frequency_n=3543
|overall_frequency_d=10758
|overall_frequency=0.329336
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=28
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=2
}}