SNP Detail For rs2999080
1.Mapping Information
Human SNP ID rs2999080
Human chromosome chr3
Human SNP position 128237865
Pig chromosome JH118478-1
Pig SNP position 113871
2.Annotation Information
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
Region3q21.3
Chromosome idchr3
Chromosome position128237865
Reported geneEEFSEC
Mapped geneEEFSEC
Upstream gene id
Downstream gene id
SNP gene ids60678
Upstream gene distance
Downstream gene distance
SNP risk allelers2999080-A
SNPsrs2999080
Merged0
SNP id current2999080
Contextintron_variant
Intergenic0
Allele frequency0.84
P value0.000001
Pvalue mlog6
P value text
Or beta0.059
%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
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
Region3q21.3
Chromosome idchr3
Chromosome position128237865
Reported geneEEFSEC
Mapped geneEEFSEC
Upstream gene id
Downstream gene id
SNP gene ids60678
Upstream gene distance
Downstream gene distance
SNP risk allelers2999080-A
SNPsrs2999080
Merged0
SNP id current2999080
Contextintron_variant
Intergenic0
Allele frequency0.838
P value0.000001
Pvalue mlog6
P value text
Or beta0.012
%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