rs1047891
| Orientation | plus |
| Stabilized | plus |
| Make rs1047891(A;A) |
| Make rs1047891(A;C) |
| Make rs1047891(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 210675783 |
| Gene | CPS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1047891 |
| dbSNP (classic) | rs1047891 |
| ClinGen | rs1047891 |
| ebi | rs1047891 |
| HLI | rs1047891 |
| Exac | rs1047891 |
| Gnomad | rs1047891 |
| Varsome | rs1047891 |
| LitVar | rs1047891 |
| Map | rs1047891 |
| PheGenI | rs1047891 |
| Biobank | rs1047891 |
| 1000 genomes | rs1047891 |
| hgdp | rs1047891 |
| ensembl | rs1047891 |
| geneview | rs1047891 |
| scholar | rs1047891 |
| rs1047891 | |
| pharmgkb | rs1047891 |
| gwascentral | rs1047891 |
| openSNP | rs1047891 |
| 23andMe | rs1047891 |
| SNPshot | rs1047891 |
| SNPdbe | rs1047891 |
| MSV3d | rs1047891 |
| GWAS Ctlg | rs1047891 |
| Merged from | Rs7422339 |
| GMAF | 0.2681 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19525478
] Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.
[PMID 20031577] 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.
[PMID 20031578] 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.
[PMID 20154341] Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.
[PMID 20383146] New loci associated with kidney function and chronic kidney disease.
[PMID 21821508] Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis.
| GWAS snp | |
|---|---|
| PMID | [PMID 24651765]
|
| Trait | Plasma homocysteine levels (post-methionine load test) |
| Title | Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. |
| Risk Allele | A |
| P-val | 9E-13 |
| Odds Ratio | .19 [0.12-0.26] |
| GWAS snp | |
|---|---|
| PMID | [PMID 24097068]
|
| Trait | HDL cholesterol |
| Title | Discovery and refinement of loci associated with lipid levels. |
| Risk Allele | A |
| P-val | 9E-10 |
| Odds Ratio | .03 [NR] unit decrease |
| ClinVar | |
|---|---|
| Risk | rs1047891(A;A) |
| Alt | rs1047891(A;A) |
| Reference | rs1047891(C;C) |
| Significance | Other |
| Disease | not specified Congenital hyperammonemia |
| Variation | info |
| Gene | CPS1 |
| CLNDBN | not specified Congenital hyperammonemia, type I |
| Reversed | 0 |
| HGVS | NC_000002.11:g.211540507C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116832.4, RCV000274786.1, |
[PMID 31151073] CPS1 T1405N polymorphism, HDL cholesterol, homocysteine and renal function are risk factors of VPA induced hyperammonemia among epilepsy patients.
