Human SNP ID | rs9788721 |
---|---|
Human chromosome | chr15 |
Human SNP position | 78510527 |
Pig chromosome | chr7 |
Pig SNP position | 52962920 |
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 | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.62 |
P value | 0.0000000000002 |
Pvalue mlog | 12.698970004336 |
P value text | (Severe Centrilobular) |
Or beta | 0.007 |
%95 Ci | [0.0050-0.0090] 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 | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.62 |
P value | 0.000000000001 |
Pvalue mlog | 12 |
P value text | (Severe Centrilobular, EA) |
Or beta | 0.007 |
%95 Ci | [0.0050-0.0090] 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 | 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 | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.0000006 |
Pvalue mlog | 6.22184874961635 |
P value text | (%LAA-950, Cases) |
Or beta | 0.1 |
%95 Ci | 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 | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | (Perc15, All) |
Or beta | 1.7 |
%95 Ci | [1.01-2.39] 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 | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.62 |
P value | 0.00000000000002 |
Pvalue mlog | 13.698970004336 |
P value text | |
Or beta | 0.068 |
%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 in COPD |
Initial sample | 5,439 European ancestry current and former smoker cases, 821 African American current and former smoker cases |
Replication sample | NA |
Region | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.595 |
P value | 0.0000007 |
Pvalue mlog | 6.15490195998574 |
P value text | |
Or beta | 0.012 |
%95 Ci | NR unit increase |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | response to bronchodilator, chronic obstructive pulmonary disease, FEV/FEC ratio |
Mapped trait URI | http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0004713 |
Study accession | GCST003265 |
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 | 15q25.1 |
Chromosome id | chr15 |
Chromosome position | 78510527 |
Reported gene | AGPHD1 |
Mapped gene | HYKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 123688 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs9788721-T |
SNPs | rs9788721 |
Merged | 0 |
SNP id current | 9788721 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.621 |
P value | 0.00000000000002 |
Pvalue mlog | 13.698970004336 |
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 |