SNP Detail For rs13141641
1.Mapping Information
Human SNP ID rs13141641
Human chromosome chr4
Human SNP position 144585304
Pig chromosome chr8
Pig SNP position 88992584
2.Annotation Information
PubMed ID22080838
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22080838
StudyA genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
Disease/TraitChronic obstructive pulmonary disease
Initial sample3,499 European ancestry cases, 1,922 European ancestry controls
Replication sample983 cases, 1,876 sibling controls
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneHHIP
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-?
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta1.32
%95 Ci[1.14-1.54]
PlatformIllumina [797983]
CNVN
Mapped traitchronic obstructive pulmonary disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341
Study accessionGCST001321
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
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneHHIP
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequency0.59
P value0.000000000000004
Pvalue mlog14.397940008672
P value text
Or beta1.39
%95 Ci[1.28-1.51]
PlatformIllumina [up to 701491] (imputed)
CNVN
Mapped traitchronic obstructive pulmonary disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341
Study accessionGCST002350
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 (moderate to severe)
Initial sample5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls
Replication sample2,651 cases and their relatives
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneHHIP
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequency0.59
P value0.000000000002
Pvalue mlog11.698970004336
P value text
Or beta1.27
%95 Ci[1.19-1.36]
PlatformIllumina [up to 701491] (imputed)
CNVN
Mapped traitchronic obstructive pulmonary disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341
Study accessionGCST002351
PubMed ID25241909
JournalRespir Res
Linkwww.ncbi.nlm.nih.gov/pubmed/25241909
StudyGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
Disease/TraitChronic bronchitis and chronic obstructive pulmonary disease
Initial sampleup to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls
Replication sampleNA
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneHHIP-AS1
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequency0.58
P value0.000003
Pvalue mlog5.52287874528033
P value text(EA)
Or beta1.27
%95 Ci[NR]
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitchronic obstructive pulmonary disease, chronic bronchitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0006505
Study accessionGCST002625
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
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneHHIP
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000000002
Pvalue mlog11.698970004336
P value text(%LAA-950, All)
Or beta0.12
%95 Ci[0.075-0.165] unit increase
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
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneHHIP
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000000008
Pvalue mlog9.09691001300805
P value text(Perc15, All)
Or beta2.2
%95 Ci[1.44-2.96] unit decrease
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
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneIntergenic
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequency0.63
P value0.00000000000004
Pvalue mlog13.397940008672
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
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneIntergenic
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequency0.608
P value0.0000003
Pvalue mlog6.52287874528033
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/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
Region4q31.21
Chromosome idchr4
Chromosome position144585304
Reported geneIntergenic
Mapped geneKRT18P51 - HHIP-AS1
Upstream gene id391703
Downstream gene id646576
SNP gene ids
Upstream gene distance12318
Downstream gene distance57612
SNP risk allelers13141641-T
SNPsrs13141641
Merged0
SNP id current13141641
Contextintergenic_variant
Intergenic1
Allele frequency0.632
P value1E-19
Pvalue mlog19
P value text
Or beta0.018
%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