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SNP Detail For rs17368659
1.Mapping Information
| Human SNP ID | rs17368659 |
|---|---|
| Human chromosome | chr11 |
| Human SNP position | 102872031 |
| Pig chromosome | chr9 |
| Pig SNP position | 37429676 |
2.Annotation Information
| PubMed ID | 25006744 |
|---|---|
| Journal | Am J Respir Crit Care Med |
| Link | www.ncbi.nlm.nih.gov/pubmed/25006744 |
| Study | Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. |
| Disease/Trait | Local histogram emphysema pattern |
| Initial sample | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases |
| Replication sample | NA |
| Region | 11q22.2 |
| Chromosome id | chr11 |
| Chromosome position | 102872031 |
| Reported gene | MMP12 |
| Mapped gene | MMP12 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 4321 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs17368659-G |
| SNPs | rs17368659 |
| Merged | 0 |
| SNP id current | 17368659 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.88 |
| P value | 0.00000001 |
| Pvalue mlog | 8 |
| P value text | (normal) |
| Or beta | 0.04 |
| %95 Ci | [0.026-0.054] unit decrease |
| Platform | Illumina [6942916] (imputed) |
| CNV | N |
| Mapped trait | emphysema pattern measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005850 |
| Study accession | GCST002525 |
| PubMed ID | 25006744 |
| Journal | Am J Respir Crit Care Med |
| Link | www.ncbi.nlm.nih.gov/pubmed/25006744 |
| Study | Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. |
| Disease/Trait | Local histogram emphysema pattern |
| Initial sample | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases |
| Replication sample | NA |
| Region | 11q22.2 |
| Chromosome id | chr11 |
| Chromosome position | 102872031 |
| Reported gene | MMP12 |
| Mapped gene | MMP12 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 4321 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs17368659-G |
| SNPs | rs17368659 |
| Merged | 0 |
| SNP id current | 17368659 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.88 |
| P value | 0.0000002 |
| Pvalue mlog | 6.69897000433601 |
| P value text | (normal, EA) |
| Or beta | 0.04 |
| %95 Ci | [0.026-0.054] unit decrease |
| Platform | Illumina [6942916] (imputed) |
| CNV | N |
| Mapped trait | emphysema pattern measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005850 |
| Study accession | GCST002525 |
| PubMed ID | 26634245 |
| Journal | BMC Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26634245 |
| Study | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. |
| Disease/Trait | Post bronchodilator FEV1 |
| Initial sample | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals |
| Replication sample | NA |
| Region | 11q22.2 |
| Chromosome id | chr11 |
| Chromosome position | 102872031 |
| Reported gene | MMP12 |
| Mapped gene | MMP12 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 4321 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs17368659-T |
| SNPs | rs17368659 |
| Merged | 0 |
| SNP id current | 17368659 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.362 |
| P value | 0.000001 |
| Pvalue mlog | 6 |
| P value text | |
| Or beta | 0.073 |
| %95 Ci | NR unit increase |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | forced expiratory volume, response to bronchodilator |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004314, http://purl.obolibrary.org/obo/GO_0097366 |
| Study accession | GCST003262 |
| PubMed ID | 26634245 |
| Journal | BMC Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26634245 |
| Study | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. |
| Disease/Trait | Post bronchodilator FEV1/FVC ratio |
| Initial sample | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals |
| Replication sample | NA |
| Region | 11q22.2 |
| Chromosome id | chr11 |
| Chromosome position | 102872031 |
| Reported gene | MMP12 |
| Mapped gene | MMP12 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 4321 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs17368659-T |
| SNPs | rs17368659 |
| Merged | 0 |
| SNP id current | 17368659 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.367 |
| P value | 0.0000000006 |
| Pvalue mlog | 9.22184874961635 |
| P value text | |
| Or beta | 0.019 |
| %95 Ci | unit increase |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | response to bronchodilator, FEV/FEC ratio |
| Mapped trait URI | http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0004713 |
| Study accession | GCST003264 |
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