Human SNP ID | rs626750 |
---|---|
Human chromosome | chr11 |
Human SNP position | 102850214 |
Pig chromosome | chr9 |
Pig SNP position | 37406414 |
PubMed ID | 24621683 |
---|---|
Journal | Lancet Respir Med |
Link | www.ncbi.nlm.nih.gov/pubmed/24621683 |
Study | Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. |
Disease/Trait | Chronic obstructive pulmonary disease (severe) |
Initial sample | 3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls |
Replication sample | 2,651 cases and their relatives |
Region | 11q22.2 |
Chromosome id | chr11 |
Chromosome position | 102850214 |
Reported gene | MMP12 |
Mapped gene | MMP3 - MMP12 |
Upstream gene id | 4314 |
Downstream gene id | 4321 |
SNP gene ids | |
Upstream gene distance | 6525 |
Downstream gene distance | 12515 |
SNP risk allele | rs626750-G |
SNPs | rs626750 |
Merged | 0 |
SNP id current | 626750 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.83 |
P value | 0.000000003 |
Pvalue mlog | 8.52287874528033 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [up to 701491] (imputed) |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341 |
Study accession | GCST002350 |
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 | 11q22.2 |
Chromosome id | chr11 |
Chromosome position | 102850214 |
Reported gene | MMP12 |
Mapped gene | MMP3 - MMP12 |
Upstream gene id | 4314 |
Downstream gene id | 4321 |
SNP gene ids | |
Upstream gene distance | 6525 |
Downstream gene distance | 12515 |
SNP risk allele | rs626750-G |
SNPs | rs626750 |
Merged | 0 |
SNP id current | 626750 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.0000004 |
Pvalue mlog | 6.39794000867203 |
P value text | (%LAA-950, Cases) |
Or beta | |
%95 Ci | |
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 | 11q22.2 |
Chromosome id | chr11 |
Chromosome position | 102850214 |
Reported gene | MMP12 |
Mapped gene | MMP3 - MMP12 |
Upstream gene id | 4314 |
Downstream gene id | 4321 |
SNP gene ids | |
Upstream gene distance | 6525 |
Downstream gene distance | 12515 |
SNP risk allele | rs626750-G |
SNPs | rs626750 |
Merged | 0 |
SNP id current | 626750 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000006 |
Pvalue mlog | 5.22184874961635 |
P value text | (Perc15, All) |
Or beta | |
%95 Ci | |
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 | 11q22.2 |
Chromosome id | chr11 |
Chromosome position | 102850214 |
Reported gene | MMP12 |
Mapped gene | MMP3 - MMP12 |
Upstream gene id | 4314 |
Downstream gene id | 4321 |
SNP gene ids | |
Upstream gene distance | 6525 |
Downstream gene distance | 12515 |
SNP risk allele | rs626750-G |
SNPs | rs626750 |
Merged | 0 |
SNP id current | 626750 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.0000007 |
Pvalue mlog | 6.15490195998574 |
P value text | (Perc15, Cases) |
Or beta | |
%95 Ci | |
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 | 11q22.2 |
Chromosome id | chr11 |
Chromosome position | 102850214 |
Reported gene | Intergenic |
Mapped gene | MMP3 - MMP12 |
Upstream gene id | 4314 |
Downstream gene id | 4321 |
SNP gene ids | |
Upstream gene distance | 6525 |
Downstream gene distance | 12515 |
SNP risk allele | rs626750-A |
SNPs | rs626750 |
Merged | 0 |
SNP id current | 626750 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.198 |
P value | 0.00000006 |
Pvalue mlog | 7.22184874961635 |
P value text | |
Or beta | 0.06 |
%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 | 102850214 |
Reported gene | Intergenic |
Mapped gene | MMP3 - MMP12 |
Upstream gene id | 4314 |
Downstream gene id | 4321 |
SNP gene ids | |
Upstream gene distance | 6525 |
Downstream gene distance | 12515 |
SNP risk allele | rs626750-A |
SNPs | rs626750 |
Merged | 0 |
SNP id current | 626750 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.2 |
P value | 0.000000001 |
Pvalue mlog | 9 |
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 |