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SNP Detail For rs45505795
1.Mapping Information
| Human SNP ID | rs45505795 |
|---|---|
| Human chromosome | chr14 |
| Human SNP position | 94290606 |
| Pig chromosome | chr7 |
| Pig SNP position | 122541043 |
2.Annotation Information
| PubMed ID | 26030696 |
|---|---|
| Journal | Am J Respir Crit Care Med |
| Link | www.ncbi.nlm.nih.gov/pubmed/26030696 |
| Study | A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. |
| Disease/Trait | Emphysema imaging phenotypes |
| Initial sample | 5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls |
| Replication sample | NA |
| Region | 14q32.13 |
| Chromosome id | chr14 |
| Chromosome position | 94290606 |
| Reported gene | SERPINA10 |
| Mapped gene | SERPINA10 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 51156 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs45505795-C |
| SNPs | rs45505795 |
| Merged | 0 |
| SNP id current | 45505795 |
| Context | synonymous_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.00000001 |
| Pvalue mlog | 8 |
| P value text | (%LAA-950, All) |
| Or beta | 0.31 |
| %95 Ci | [0.15-0.47] unit decrease |
| Platform | Illumina [7600000] (imputed) |
| CNV | N |
| Mapped trait | emphysema imaging measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007626 |
| Study accession | GCST002945 |
| PubMed ID | 26030696 |
| Journal | Am J Respir Crit Care Med |
| Link | www.ncbi.nlm.nih.gov/pubmed/26030696 |
| Study | A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. |
| Disease/Trait | Emphysema imaging phenotypes |
| Initial sample | 5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls |
| Replication sample | NA |
| Region | 14q32.13 |
| Chromosome id | chr14 |
| Chromosome position | 94290606 |
| Reported gene | SERPINA10 |
| Mapped gene | SERPINA10 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 51156 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs45505795-C |
| SNPs | rs45505795 |
| Merged | 0 |
| SNP id current | 45505795 |
| Context | synonymous_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000001 |
| Pvalue mlog | 6 |
| P value text | (Perc15, All) |
| Or beta | 6.4 |
| %95 Ci | [1.11-11.69] unit increase |
| Platform | Illumina [7600000] (imputed) |
| CNV | N |
| Mapped trait | emphysema imaging measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007626 |
| Study accession | GCST002945 |
| 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 | 14q32.13 |
| Chromosome id | chr14 |
| Chromosome position | 94290606 |
| Reported gene | SERPINA10 |
| Mapped gene | SERPINA10 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 51156 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs45505795-C |
| SNPs | rs45505795 |
| Merged | 0 |
| SNP id current | 45505795 |
| Context | synonymous_variant |
| Intergenic | 0 |
| Allele frequency | 0.036 |
| P value | 0.0000001 |
| Pvalue mlog | 7 |
| P value text | |
| Or beta | 0.155 |
| %95 Ci | NR unit decrease |
| 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 | 14q32.13 |
| Chromosome id | chr14 |
| Chromosome position | 94290606 |
| Reported gene | SERPINA10 |
| Mapped gene | SERPINA10 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 51156 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs45505795-C |
| SNPs | rs45505795 |
| Merged | 0 |
| SNP id current | 45505795 |
| Context | synonymous_variant |
| Intergenic | 0 |
| Allele frequency | 0.036 |
| P value | 0.0000000001 |
| Pvalue mlog | 10 |
| P value text | |
| Or beta | 0.039 |
| %95 Ci | unit decrease |
| 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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