SNP Detail For rs1980057
1.Mapping Information
Human SNP ID rs1980057
Human chromosome chr4
Human SNP position 144564586
Pig chromosome chr8
Pig SNP position 89012657
2.Annotation Information
PubMed ID20010835
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20010835
StudyMeta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
Disease/TraitPulmonary function
Initial sample20,890 European ancestry individuals
Replication sample16,178 European ancestry individuals
Region4q31.21
Chromosome idchr4
Chromosome position144564586
Reported geneHHIP
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2081
Downstream gene distance7652
SNP risk allelers1980057-T
SNPsrs1980057
Merged0
SNP id current1980057
Contextintergenic_variant
Intergenic1
Allele frequency0.4
P value3E-20
Pvalue mlog19.5228787452803
P value text(FEV1/FVC)
Or beta0.52
%95 Ci[NR] % increase
PlatformAffymetrix, Illumina [2534500] (imputed)
CNVN
Mapped traitpulmonary function measurement, FEV/FEC ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST000542
PubMed ID23284291
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23284291
StudyGenome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
Disease/TraitPulmonary function (interaction)
Initial sample50,047 European ancestry individuals
Replication sampleNA
Region4q31.21
Chromosome idchr4
Chromosome position144564586
Reported geneHHIP
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2081
Downstream gene distance7652
SNP risk allelers1980057-?
SNPsrs1980057
Merged0
SNP id current1980057
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000000000000005
Pvalue mlog17.3010299956639
P value text(FEV1/FVC, Ever-smoking)
Or beta
%95 Ci
PlatformNR [~ 2500000] (imputed)
CNVN
Mapped traitFEV/FEC ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST001784
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 position144564586
Reported geneIntergenic
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2081
Downstream gene distance7652
SNP risk allelers1980057-T
SNPsrs1980057
Merged0
SNP id current1980057
Contextintergenic_variant
Intergenic1
Allele frequency0.58
P value0.0000000000001
Pvalue mlog13
P value text
Or beta0.071
%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 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 position144564586
Reported geneIntergenic
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2081
Downstream gene distance7652
SNP risk allelers1980057-T
SNPsrs1980057
Merged0
SNP id current1980057
Contextintergenic_variant
Intergenic1
Allele frequency0.503
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta0.011
%95 CiNR unit increase
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/FVC ratio
Initial sample6,659 European ancestry current and former smoker individuals
Replication sampleNA
Region4q31.21
Chromosome idchr4
Chromosome position144564586
Reported geneLOC646576, HHIP
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2081
Downstream gene distance7652
SNP risk allelers1980057-?
SNPsrs1980057
Merged0
SNP id current1980057
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.00000002
Pvalue mlog7.69897000433601
P value text
Or beta0.0146
%95 Ciunit increase
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
Region4q31.21
Chromosome idchr4
Chromosome position144564586
Reported geneIntergenic
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2081
Downstream gene distance7652
SNP risk allelers1980057-T
SNPsrs1980057
Merged0
SNP id current1980057
Contextintergenic_variant
Intergenic1
Allele frequency0.581
P value0.00000000000000001
Pvalue mlog17
P value text
Or beta0.017
%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