SNP Detail For rs2036527
1.Mapping Information
Human SNP ID rs2036527
Human chromosome chr15
Human SNP position 78559273
Pig chromosome chr7
Pig SNP position 52922448
2.Annotation Information
PubMed ID21946350
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21946350
StudyGenome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
Disease/TraitPulmonary function
Initial sample48,201 European ancestry individuals
Replication sample46,411 European ancestry individuals
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneCHRNA5
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527-G
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000007
Pvalue mlog6.15490195998574
P value text(FEV1)
Or beta0.026
%95 Ci[0.016-0.036] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitpulmonary function measurement, forced expiratory volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004314
Study accessionGCST001251
PubMed ID22832964
JournalTransl Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/22832964
StudyGenome-wide meta-analyses of smoking behaviors in African Americans.
Disease/TraitSmoking behavior
Initial sampleUp to 32,389 African American individuals
Replication sampleNA
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneCHRNA5
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527-A
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequency0.22
P value0.00000002
Pvalue mlog7.69897000433601
P value text(CPD)
Or beta0.04
%95 Ci[0.026-0.054] unit increase
PlatformAffymetrix, Illumina [~ 2900000] (imputed)
CNVN
Mapped traitsmoking behavior
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004318
Study accessionGCST001539
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
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneIntergenic
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527-A
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequency0.6
P value0.000000000000009
Pvalue mlog14.0457574905606
P value text
Or beta0.071
%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
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneIntergenic
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527-A
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequency0.504
P value0.0000007
Pvalue mlog6.15490195998574
P value text
Or beta0.012
%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/TraitPre bronchodilator FEV1
Initial sample6,659 European ancestry current and former smoker individuals
Replication sampleNA
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneCHRNA5
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527NR
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta0.08021
%95 Ciunit decrease
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitforced expiratory volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004314
Study accessionGCST003266
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/TraitPre bronchodilator FEV1/FVC ratio
Initial sample6,659 European ancestry current and former smoker individuals
Replication sampleNA
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneCHRNA5
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527-?
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000000004
Pvalue mlog9.39794000867203
P value text
Or beta0.01665
%95 Ciunit decrease
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitFEV/FEC ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST003267
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
Region15q25.1
Chromosome idchr15
Chromosome position78559273
Reported geneIntergenic
Mapped genePSMA4 - CHRNA5
Upstream gene id5685
Downstream gene id1138
SNP gene ids
Upstream gene distance10053
Downstream gene distance6247
SNP risk allelers2036527-A
SNPsrs2036527
Merged0
SNP id current2036527
Contextintergenic_variant
Intergenic1
Allele frequency0.601
P value0.0000000000000007
Pvalue mlog15.1549019599857
P value text
Or beta0.015
%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