SNP Detail For rs17368582
1.Mapping Information
Human SNP ID rs17368582
Human chromosome chr11
Human SNP position 102867344
Pig chromosome chr9
Pig SNP position 37425377
2.Annotation Information
PubMed ID25006744
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/25006744
StudyGenome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
Disease/TraitLocal histogram emphysema pattern
Initial sample3,732 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 sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102867344
Reported geneMMP12
Mapped geneMMP12
Upstream gene id
Downstream gene id
SNP gene ids4321
Upstream gene distance
Downstream gene distance
SNP risk allelers17368582-G
SNPsrs17368582
Merged0
SNP id current17368582
Contextsynonymous_variant
Intergenic0
Allele frequency0.88
P value0.000000003
Pvalue mlog8.52287874528033
P value text(Moderate Centrilobular)
Or beta0.02
%95 Ci[0.012-0.028] unit increase
PlatformIllumina [6942916] (imputed)
CNVN
Mapped traitemphysema pattern measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005850
Study accessionGCST002525
PubMed ID25006744
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/25006744
StudyGenome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
Disease/TraitLocal histogram emphysema pattern
Initial sample3,732 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 sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102867344
Reported geneMMP12
Mapped geneMMP12
Upstream gene id
Downstream gene id
SNP gene ids4321
Upstream gene distance
Downstream gene distance
SNP risk allelers17368582-G
SNPsrs17368582
Merged0
SNP id current17368582
Contextsynonymous_variant
Intergenic0
Allele frequency0.88
P value0.000000007
Pvalue mlog8.15490195998574
P value text(Moderate Centrilobular, EA)
Or beta0.02
%95 Ci[0.012-0.028] unit increase
PlatformIllumina [6942916] (imputed)
CNVN
Mapped traitemphysema pattern measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005850
Study accessionGCST002525
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 position102867344
Reported geneMMP12
Mapped geneMMP12
Upstream gene id
Downstream gene id
SNP gene ids4321
Upstream gene distance
Downstream gene distance
SNP risk allelers17368582-T
SNPsrs17368582
Merged0
SNP id current17368582
Contextsynonymous_variant
Intergenic0
Allele frequency0.886
P value0.000001
Pvalue mlog6
P value text
Or beta0.072
%95 CiNR unit decrease
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 in COPD
Initial sample5,439 European ancestry current and former smoker cases, 821 African American current and former smoker cases
Replication sampleNA
Region11q22.2
Chromosome idchr11
Chromosome position102867344
Reported geneMMP12
Mapped geneMMP12
Upstream gene id
Downstream gene id
SNP gene ids4321
Upstream gene distance
Downstream gene distance
SNP risk allelers17368582-T
SNPsrs17368582
Merged0
SNP id current17368582
Contextsynonymous_variant
Intergenic0
Allele frequency0.891
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta0.018
%95 CiNR unit decrease
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitresponse to bronchodilator, chronic obstructive pulmonary disease, FEV/FEC ratio
Mapped trait URIhttp://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST003265
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 position102867344
Reported geneMMP12
Mapped geneMMP12
Upstream gene id
Downstream gene id
SNP gene ids4321
Upstream gene distance
Downstream gene distance
SNP risk allelers17368582-T
SNPsrs17368582
Merged0
SNP id current17368582
Contextsynonymous_variant
Intergenic0
Allele frequency0.886
P value0.0000000008
Pvalue mlog9.09691001300805
P value text
Or beta0.019
%95 Ciunit decrease
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