Human SNP ID | rs13141641 |
---|---|
Human chromosome | chr4 |
Human SNP position | 144585304 |
Pig chromosome | chr8 |
Pig SNP position | 88992584 |
PubMed ID | 22080838 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22080838 |
Study | A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. |
Disease/Trait | Chronic obstructive pulmonary disease |
Initial sample | 3,499 European ancestry cases, 1,922 European ancestry controls |
Replication sample | 983 cases, 1,876 sibling controls |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | HHIP |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-? |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | |
Or beta | 1.32 |
%95 Ci | [1.14-1.54] |
Platform | Illumina [797983] |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341 |
Study accession | GCST001321 |
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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | HHIP |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.59 |
P value | 0.000000000000004 |
Pvalue mlog | 14.397940008672 |
P value text | |
Or beta | 1.39 |
%95 Ci | [1.28-1.51] |
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 | 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 (moderate to severe) |
Initial sample | 5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls |
Replication sample | 2,651 cases and their relatives |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | HHIP |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.59 |
P value | 0.000000000002 |
Pvalue mlog | 11.698970004336 |
P value text | |
Or beta | 1.27 |
%95 Ci | [1.19-1.36] |
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 | GCST002351 |
PubMed ID | 25241909 |
Journal | Respir Res |
Link | www.ncbi.nlm.nih.gov/pubmed/25241909 |
Study | Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. |
Disease/Trait | Chronic bronchitis and chronic obstructive pulmonary disease |
Initial sample | up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls |
Replication sample | NA |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | HHIP-AS1 |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.58 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | (EA) |
Or beta | 1.27 |
%95 Ci | [NR] |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease, chronic bronchitis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0006505 |
Study accession | GCST002625 |
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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | HHIP |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000000000002 |
Pvalue mlog | 11.698970004336 |
P value text | (%LAA-950, All) |
Or beta | 0.12 |
%95 Ci | [0.075-0.165] 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 | 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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | HHIP |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.0000000008 |
Pvalue mlog | 9.09691001300805 |
P value text | (Perc15, All) |
Or beta | 2.2 |
%95 Ci | [1.44-2.96] 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 | 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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | Intergenic |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.63 |
P value | 0.00000000000004 |
Pvalue mlog | 13.397940008672 |
P value text | |
Or beta | 0.072 |
%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 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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | Intergenic |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.608 |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | |
Or beta | 0.012 |
%95 Ci | NR unit decrease |
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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144585304 |
Reported gene | Intergenic |
Mapped gene | KRT18P51 - HHIP-AS1 |
Upstream gene id | 391703 |
Downstream gene id | 646576 |
SNP gene ids | |
Upstream gene distance | 12318 |
Downstream gene distance | 57612 |
SNP risk allele | rs13141641-T |
SNPs | rs13141641 |
Merged | 0 |
SNP id current | 13141641 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.632 |
P value | 1E-19 |
Pvalue mlog | 19 |
P value text | |
Or beta | 0.018 |
%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 |