Human SNP ID | rs1690789 |
---|---|
Human chromosome | chr1 |
Human SNP position | 218524685 |
Pig chromosome | chr10 |
Pig SNP position | 10490972 |
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 | 1q41 |
Chromosome id | chr1 |
Chromosome position | 218524685 |
Reported gene | TGFB2 |
Mapped gene | TGFB2 - LOC105372924 |
Upstream gene id | 7042 |
Downstream gene id | 105372924 |
SNP gene ids | |
Upstream gene distance | 80066 |
Downstream gene distance | 173879 |
SNP risk allele | rs1690789-C |
SNPs | rs1690789 |
Merged | 0 |
SNP id current | 1690789 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.51 |
P value | 0.00000003 |
Pvalue mlog | 7.52287874528033 |
P value text | (normal) |
Or beta | 0.03 |
%95 Ci | [0.022-0.038] unit increase |
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 | 1q41 |
Chromosome id | chr1 |
Chromosome position | 218524685 |
Reported gene | TGFB2 |
Mapped gene | TGFB2 - LOC105372924 |
Upstream gene id | 7042 |
Downstream gene id | 105372924 |
SNP gene ids | |
Upstream gene distance | 80066 |
Downstream gene distance | 173879 |
SNP risk allele | rs1690789-C |
SNPs | rs1690789 |
Merged | 0 |
SNP id current | 1690789 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.51 |
P value | 0.000000008 |
Pvalue mlog | 8.09691001300805 |
P value text | (Moderate Centrilobular) |
Or beta | 0.02 |
%95 Ci | [0.016-0.024] 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 | 1q41 |
Chromosome id | chr1 |
Chromosome position | 218524685 |
Reported gene | TGFB2 |
Mapped gene | TGFB2 - LOC105372924 |
Upstream gene id | 7042 |
Downstream gene id | 105372924 |
SNP gene ids | |
Upstream gene distance | 80066 |
Downstream gene distance | 173879 |
SNP risk allele | rs1690789-C |
SNPs | rs1690789 |
Merged | 0 |
SNP id current | 1690789 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.51 |
P value | 0.000000007 |
Pvalue mlog | 8.15490195998574 |
P value text | (normal, EA) |
Or beta | 0.03 |
%95 Ci | [0.022-0.038] unit increase |
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 | 1q41 |
Chromosome id | chr1 |
Chromosome position | 218524685 |
Reported gene | TGFB2 |
Mapped gene | TGFB2 - LOC105372924 |
Upstream gene id | 7042 |
Downstream gene id | 105372924 |
SNP gene ids | |
Upstream gene distance | 80066 |
Downstream gene distance | 173879 |
SNP risk allele | rs1690789-C |
SNPs | rs1690789 |
Merged | 0 |
SNP id current | 1690789 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.51 |
P value | 0.000000003 |
Pvalue mlog | 8.52287874528033 |
P value text | (Moderate Centrilobular, EA) |
Or beta | 0.02 |
%95 Ci | [0.016-0.024] 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/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 | 1q41 |
Chromosome id | chr1 |
Chromosome position | 218524685 |
Reported gene | Intergenic |
Mapped gene | TGFB2 - LOC105372924 |
Upstream gene id | 7042 |
Downstream gene id | 105372924 |
SNP gene ids | |
Upstream gene distance | 80066 |
Downstream gene distance | 173879 |
SNP risk allele | rs1690789-T |
SNPs | rs1690789 |
Merged | 0 |
SNP id current | 1690789 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.455 |
P value | 0.00000008 |
Pvalue mlog | 7.09691001300805 |
P value text | |
Or beta | 0.01 |
%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 |