SNP Detail For rs626750
1.Mapping Information
Human SNP ID rs626750
Human chromosome chr11
Human SNP position 102850214
Pig chromosome chr9
Pig SNP position 37406414
2.Annotation Information
PubMed ID24621683
JournalLancet Respir Med
Linkwww.ncbi.nlm.nih.gov/pubmed/24621683
StudyRisk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
Disease/TraitChronic obstructive pulmonary disease (severe)
Initial sample3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls
Replication sample2,651 cases and their relatives
Region11q22.2
Chromosome idchr11
Chromosome position102850214
Reported geneMMP12
Mapped geneMMP3 - MMP12
Upstream gene id4314
Downstream gene id4321
SNP gene ids
Upstream gene distance6525
Downstream gene distance12515
SNP risk allelers626750-G
SNPsrs626750
Merged0
SNP id current626750
Contextintergenic_variant
Intergenic1
Allele frequency0.83
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta
%95 Ci
PlatformIllumina [up to 701491] (imputed)
CNVN
Mapped traitchronic obstructive pulmonary disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341
Study accessionGCST002350
PubMed ID26030696
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/26030696
StudyA Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.
Disease/TraitEmphysema imaging phenotypes
Initial sample5,385 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 sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102850214
Reported geneMMP12
Mapped geneMMP3 - MMP12
Upstream gene id4314
Downstream gene id4321
SNP gene ids
Upstream gene distance6525
Downstream gene distance12515
SNP risk allelers626750-G
SNPsrs626750
Merged0
SNP id current626750
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000004
Pvalue mlog6.39794000867203
P value text(%LAA-950, Cases)
Or beta
%95 Ci
PlatformIllumina [7600000] (imputed)
CNVN
Mapped traitemphysema imaging measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007626
Study accessionGCST002945
PubMed ID26030696
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/26030696
StudyA Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.
Disease/TraitEmphysema imaging phenotypes
Initial sample5,385 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 sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102850214
Reported geneMMP12
Mapped geneMMP3 - MMP12
Upstream gene id4314
Downstream gene id4321
SNP gene ids
Upstream gene distance6525
Downstream gene distance12515
SNP risk allelers626750-G
SNPsrs626750
Merged0
SNP id current626750
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000006
Pvalue mlog5.22184874961635
P value text(Perc15, All)
Or beta
%95 Ci
PlatformIllumina [7600000] (imputed)
CNVN
Mapped traitemphysema imaging measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007626
Study accessionGCST002945
PubMed ID26030696
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/26030696
StudyA Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.
Disease/TraitEmphysema imaging phenotypes
Initial sample5,385 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 sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102850214
Reported geneMMP12
Mapped geneMMP3 - MMP12
Upstream gene id4314
Downstream gene id4321
SNP gene ids
Upstream gene distance6525
Downstream gene distance12515
SNP risk allelers626750-G
SNPsrs626750
Merged0
SNP id current626750
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000007
Pvalue mlog6.15490195998574
P value text(Perc15, Cases)
Or beta
%95 Ci
PlatformIllumina [7600000] (imputed)
CNVN
Mapped traitemphysema imaging measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007626
Study accessionGCST002945
PubMed ID26634245
JournalBMC Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26634245
StudyA genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.
Disease/TraitPost bronchodilator FEV1
Initial sample10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals
Replication sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102850214
Reported geneIntergenic
Mapped geneMMP3 - MMP12
Upstream gene id4314
Downstream gene id4321
SNP gene ids
Upstream gene distance6525
Downstream gene distance12515
SNP risk allelers626750-A
SNPsrs626750
Merged0
SNP id current626750
Contextintergenic_variant
Intergenic1
Allele frequency0.198
P value0.00000006
Pvalue mlog7.22184874961635
P value text
Or beta0.06
%95 CiNR unit increase
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitforced expiratory volume, response to bronchodilator
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004314, http://purl.obolibrary.org/obo/GO_0097366
Study accessionGCST003262
PubMed ID26634245
JournalBMC Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26634245
StudyA genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.
Disease/TraitPost bronchodilator FEV1/FVC ratio
Initial sample10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals
Replication sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102850214
Reported geneIntergenic
Mapped geneMMP3 - MMP12
Upstream gene id4314
Downstream gene id4321
SNP gene ids
Upstream gene distance6525
Downstream gene distance12515
SNP risk allelers626750-A
SNPsrs626750
Merged0
SNP id current626750
Contextintergenic_variant
Intergenic1
Allele frequency0.2
P value0.000000001
Pvalue mlog9
P value text
Or beta0.014
%95 Ciunit increase
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitresponse to bronchodilator, FEV/FEC ratio
Mapped trait URIhttp://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST003264