Human SNP ID | rs7929679 |
---|---|
Human chromosome | chr11 |
Human SNP position | 34784302 |
Pig chromosome | chr2 |
Pig SNP position | 28579206 |
PubMed ID | 23144326 |
---|---|
Journal | Am J Respir Crit Care Med |
Link | www.ncbi.nlm.nih.gov/pubmed/23144326 |
Study | Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. |
Disease/Trait | Chronic obstructive pulmonary disease-related biomarkers |
Initial sample | Up to 1,951 European ancestry smokers |
Replication sample | NA |
Region | 11p13 |
Chromosome id | chr11 |
Chromosome position | 34784302 |
Reported gene | APIP, EHF |
Mapped gene | LOC102723568 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 102723568 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7929679-G |
SNPs | rs7929679 |
Merged | 0 |
SNP id current | 7929679 |
Context | regulatory_region_variant |
Intergenic | 0 |
Allele frequency | 0.49 |
P value | 0.000000007 |
Pvalue mlog | 8.15490195998574 |
P value text | (CC16) |
Or beta | |
%95 Ci | |
Platform | Illumina [588352] |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease, CC16 measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0005080 |
Study accession | GCST001737 |
PubMed ID | 26417704 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26417704 |
Study | Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. |
Disease/Trait | Lung disease severity in cystic fibrosis |
Initial sample | 4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases |
Replication sample | NA |
Region | 11p13 |
Chromosome id | chr11 |
Chromosome position | 34784302 |
Reported gene | APIP, EHF |
Mapped gene | LOC102723568 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 102723568 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7929679-G |
SNPs | rs7929679 |
Merged | 0 |
SNP id current | 7929679 |
Context | regulatory_region_variant |
Intergenic | 0 |
Allele frequency | 0.5 |
P value | 0.000000001 |
Pvalue mlog | 9 |
P value text | (EA, p.Phe508del, fixed) |
Or beta | |
%95 Ci | |
Platform | Illumina [8520458] (imputed) |
CNV | N |
Mapped trait | Cystic fibrosis, lung disease severity measurement |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_586, http://www.ebi.ac.uk/efo/EFO_0007744 |
Study accession | GCST003143 |
PubMed ID | 26417704 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26417704 |
Study | Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. |
Disease/Trait | Lung disease severity in cystic fibrosis |
Initial sample | 4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases |
Replication sample | NA |
Region | 11p13 |
Chromosome id | chr11 |
Chromosome position | 34784302 |
Reported gene | APIP, EHF |
Mapped gene | LOC102723568 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 102723568 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7929679-G |
SNPs | rs7929679 |
Merged | 0 |
SNP id current | 7929679 |
Context | regulatory_region_variant |
Intergenic | 0 |
Allele frequency | 0.5 |
P value | 0.0000001 |
Pvalue mlog | 7 |
P value text | (males, p.Phe508del, fixed) |
Or beta | |
%95 Ci | |
Platform | Illumina [8520458] (imputed) |
CNV | N |
Mapped trait | Cystic fibrosis, lung disease severity measurement |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_586, http://www.ebi.ac.uk/efo/EFO_0007744 |
Study accession | GCST003143 |
PubMed ID | 26417704 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26417704 |
Study | Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. |
Disease/Trait | Lung disease severity in cystic fibrosis |
Initial sample | 4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases |
Replication sample | NA |
Region | 11p13 |
Chromosome id | chr11 |
Chromosome position | 34784302 |
Reported gene | APIP, EHF |
Mapped gene | LOC102723568 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 102723568 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7929679-G |
SNPs | rs7929679 |
Merged | 0 |
SNP id current | 7929679 |
Context | regulatory_region_variant |
Intergenic | 0 |
Allele frequency | 0.5 |
P value | 0.0000000002 |
Pvalue mlog | 9.69897000433601 |
P value text | (p.Phe508del, fixed) |
Or beta | 0.11 |
%95 Ci | [NR] unit increase |
Platform | Illumina [8520458] (imputed) |
CNV | N |
Mapped trait | Cystic fibrosis, lung disease severity measurement |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_586, http://www.ebi.ac.uk/efo/EFO_0007744 |
Study accession | GCST003143 |