Human SNP ID | rs7422339 |
---|---|
Human chromosome | chr2 |
Human SNP position | 210675783 |
Pig chromosome | chr15 |
Pig SNP position | 125275425 |
PubMed ID | 20031577 |
---|---|
Journal | Circ Cardiovasc Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20031577 |
Study | 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. |
Disease/Trait | Fibrinogen |
Initial sample | 17,686 European ancestry female individuals |
Replication sample | NA |
Region | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210675783 |
Reported gene | CPS1 |
Mapped gene | CPS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 1373 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7422339-A |
SNPs | rs7422339 |
Merged | 1 |
SNP id current | 7422339 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.31 |
P value | 0.000000009 |
Pvalue mlog | 8.04575749056067 |
P value text | |
Or beta | 4.84 |
%95 Ci | [NR] mg/dl decrease |
Platform | Illumina [337343] |
CNV | N |
Mapped trait | fibrinogen measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004623 |
Study accession | GCST000368 |
PubMed ID | 20154341 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20154341 |
Study | Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. |
Disease/Trait | Homocysteine levels |
Initial sample | 1,786 Filipino ancestry female individuals |
Replication sample | 1,679 Filipino ancestry offspring |
Region | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210675783 |
Reported gene | CPS1 |
Mapped gene | CPS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 1373 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7422339-A |
SNPs | rs7422339 |
Merged | 1 |
SNP id current | 7422339 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.24 |
P value | 0.000000005 |
Pvalue mlog | 8.30102999566398 |
P value text | |
Or beta | 0.05 |
%95 Ci | [0.03-0.07] log(Hcy) increase |
Platform | Affymetrix [2073674] (imputed) |
CNV | N |
Mapped trait | homocysteine measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004578 |
Study accession | GCST000594 |
PubMed ID | 20383146 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20383146 |
Study | New loci associated with kidney function and chronic kidney disease. |
Disease/Trait | Chronic kidney disease |
Initial sample | Up to 67,093 European ancestry individuals |
Replication sample | Up to 22,982 European ancestry individuals |
Region | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210675783 |
Reported gene | CPS1 |
Mapped gene | CPS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 1373 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7422339-A |
SNPs | rs7422339 |
Merged | 1 |
SNP id current | 7422339 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.32 |
P value | 0.000000000000001 |
Pvalue mlog | 15 |
P value text | (eGFRcrea) |
Or beta | 0.01 |
%95 Ci | [0.005-0.013] ml/min/1.73 m2 decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | chronic kidney disease, serum creatinine measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003884, http://www.ebi.ac.uk/efo/EFO_0004518 |
Study accession | GCST000649 |
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 | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210675783 |
Reported gene | CPS1 |
Mapped gene | CPS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 1373 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7422339-A |
SNPs | rs7422339 |
Merged | 1 |
SNP id current | 7422339 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 5E-27 |
Pvalue mlog | 26.3010299956639 |
P value text | |
Or beta | 0.0864 |
%95 Ci | [0.071-0.102] 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 |
PubMed ID | 24625756 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24625756 |
Study | Genetic determinants influencing human serum metabolome among African Americans. |
Disease/Trait | Serum metabolite levels |
Initial sample | 1,260 African American individuals |
Replication sample | NA |
Region | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210675783 |
Reported gene | CPS1 |
Mapped gene | CPS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 1373 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7422339-A |
SNPs | rs7422339 |
Merged | 1 |
SNP id current | 7422339 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.32 |
P value | 0.000000000004 |
Pvalue mlog | 11.397940008672 |
P value text | (Glycine) |
Or beta | 0.1 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix [2341704] (imputed) |
CNV | N |
Mapped trait | serum metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005653 |
Study accession | GCST002388 |