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SNP Detail For rs1801133
1.Mapping Information
| Human SNP ID | rs1801133 |
|---|---|
| Human chromosome | chr1 |
| Human SNP position | 11796321 |
| Pig chromosome | chr6 |
| Pig SNP position | 65783105 |
2.Annotation Information
| PubMed ID | 20031578 |
|---|---|
| Journal | Circ Cardiovasc Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20031578 |
| Study | 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. |
| Disease/Trait | Homocysteine levels |
| Initial sample | 13,974 European ancestry females |
| Replication sample | 840 European ancestry females |
| Region | 1p36.22 |
| Chromosome id | chr1 |
| Chromosome position | 11796321 |
| Reported gene | MTHFR |
| Mapped gene | MTHFR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 4524 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801133-A |
| SNPs | rs1801133 |
| Merged | 0 |
| SNP id current | 1801133 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 8E-35 |
| Pvalue mlog | 34.096910013008 |
| P value text | (WGHS) |
| Or beta | 0.05 |
| %95 Ci | [NR] unit increase |
| Platform | Illumina [336469] |
| CNV | N |
| Mapped trait | homocysteine measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004578 |
| Study accession | GCST000367 |
| PubMed ID | 23824729 |
| Journal | Am J Clin Nutr |
| Link | www.ncbi.nlm.nih.gov/pubmed/23824729 |
| Study | Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. |
| Disease/Trait | Homocysteine levels |
| Initial sample | 44,147 European ancestry individuals |
| Replication sample | NA |
| Region | 1p36.22 |
| Chromosome id | chr1 |
| Chromosome position | 11796321 |
| Reported gene | MTHFR |
| Mapped gene | MTHFR |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 4524 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1801133-A |
| SNPs | rs1801133 |
| Merged | 0 |
| SNP id current | 1801133 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.34 |
| P value | 4E-104 |
| Pvalue mlog | 103.397940008672 |
| P value text | |
| Or beta | 0.1583 |
| %95 Ci | [0.14-0.17] unit increase |
| Platform | Affymetrix, Illumina [2090256] (imputed) |
| CNV | N |
| Mapped trait | homocysteine measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004578 |
| Study accession | GCST002087 |
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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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