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SNP Detail For rs56113850
1.Mapping Information
| Human SNP ID | rs56113850 |
|---|---|
| Human chromosome | chr19 |
| Human SNP position | 40847202 |
| Pig chromosome | chr6 |
| Pig SNP position | 44874373 |
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 | 19q13.2 |
| Chromosome id | chr19 |
| Chromosome position | 40847202 |
| Reported gene | CYP2A6 |
| Mapped gene | CYP2A6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1548 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs56113850-T |
| SNPs | rs56113850 |
| Merged | 0 |
| SNP id current | 56113850 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.4 |
| P value | 0.000000001 |
| Pvalue mlog | 9 |
| P value text | (Moderate Centrilobular) |
| Or beta | 0.02 |
| %95 Ci | [0.012-0.028] 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 | 19q13.2 |
| Chromosome id | chr19 |
| Chromosome position | 40847202 |
| Reported gene | CYP2A6 |
| Mapped gene | CYP2A6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1548 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs56113850-T |
| SNPs | rs56113850 |
| Merged | 0 |
| SNP id current | 56113850 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.4 |
| P value | 0.000001 |
| Pvalue mlog | 6 |
| P value text | (Moderate Centrilobular, EA) |
| Or beta | 0.02 |
| %95 Ci | [0.012-0.028] 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 | 19q13.2 |
| Chromosome id | chr19 |
| Chromosome position | 40847202 |
| Reported gene | CYP2A6 |
| Mapped gene | CYP2A6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1548 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs56113850-T |
| SNPs | rs56113850 |
| Merged | 0 |
| SNP id current | 56113850 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.458 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | |
| Or beta | 0.067 |
| %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 | 19q13.2 |
| Chromosome id | chr19 |
| Chromosome position | 40847202 |
| Reported gene | CYP2A6 |
| Mapped gene | CYP2A6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1548 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs56113850-T |
| SNPs | rs56113850 |
| Merged | 0 |
| SNP id current | 56113850 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.462 |
| P value | 0.000000005 |
| Pvalue mlog | 8.30102999566398 |
| P value text | |
| Or beta | 0.014 |
| %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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