SNP Detail For rs7929679
1.Mapping Information
Human SNP ID rs7929679
Human chromosome chr11
Human SNP position 34784302
Pig chromosome chr2
Pig SNP position 28579206
2.Annotation Information
PubMed ID23144326
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/23144326
StudyGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
Disease/TraitChronic obstructive pulmonary disease-related biomarkers
Initial sampleUp to 1,951 European ancestry smokers
Replication sampleNA
Region11p13
Chromosome idchr11
Chromosome position34784302
Reported geneAPIP, EHF
Mapped geneLOC102723568
Upstream gene id
Downstream gene id
SNP gene ids102723568
Upstream gene distance
Downstream gene distance
SNP risk allelers7929679-G
SNPsrs7929679
Merged0
SNP id current7929679
Contextregulatory_region_variant
Intergenic0
Allele frequency0.49
P value0.000000007
Pvalue mlog8.15490195998574
P value text(CC16)
Or beta
%95 Ci
PlatformIllumina [588352]
CNVN
Mapped traitchronic obstructive pulmonary disease, CC16 measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0005080
Study accessionGCST001737
PubMed ID26417704
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26417704
StudyGenome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.
Disease/TraitLung disease severity in cystic fibrosis
Initial sample4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases
Replication sampleNA
Region11p13
Chromosome idchr11
Chromosome position34784302
Reported geneAPIP, EHF
Mapped geneLOC102723568
Upstream gene id
Downstream gene id
SNP gene ids102723568
Upstream gene distance
Downstream gene distance
SNP risk allelers7929679-G
SNPsrs7929679
Merged0
SNP id current7929679
Contextregulatory_region_variant
Intergenic0
Allele frequency0.5
P value0.000000001
Pvalue mlog9
P value text(EA, p.Phe508del, fixed)
Or beta
%95 Ci
PlatformIllumina [8520458] (imputed)
CNVN
Mapped traitCystic fibrosis, lung disease severity measurement
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_586, http://www.ebi.ac.uk/efo/EFO_0007744
Study accessionGCST003143
PubMed ID26417704
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26417704
StudyGenome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.
Disease/TraitLung disease severity in cystic fibrosis
Initial sample4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases
Replication sampleNA
Region11p13
Chromosome idchr11
Chromosome position34784302
Reported geneAPIP, EHF
Mapped geneLOC102723568
Upstream gene id
Downstream gene id
SNP gene ids102723568
Upstream gene distance
Downstream gene distance
SNP risk allelers7929679-G
SNPsrs7929679
Merged0
SNP id current7929679
Contextregulatory_region_variant
Intergenic0
Allele frequency0.5
P value0.0000001
Pvalue mlog7
P value text(males, p.Phe508del, fixed)
Or beta
%95 Ci
PlatformIllumina [8520458] (imputed)
CNVN
Mapped traitCystic fibrosis, lung disease severity measurement
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_586, http://www.ebi.ac.uk/efo/EFO_0007744
Study accessionGCST003143
PubMed ID26417704
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26417704
StudyGenome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.
Disease/TraitLung disease severity in cystic fibrosis
Initial sample4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases
Replication sampleNA
Region11p13
Chromosome idchr11
Chromosome position34784302
Reported geneAPIP, EHF
Mapped geneLOC102723568
Upstream gene id
Downstream gene id
SNP gene ids102723568
Upstream gene distance
Downstream gene distance
SNP risk allelers7929679-G
SNPsrs7929679
Merged0
SNP id current7929679
Contextregulatory_region_variant
Intergenic0
Allele frequency0.5
P value0.0000000002
Pvalue mlog9.69897000433601
P value text(p.Phe508del, fixed)
Or beta0.11
%95 Ci[NR] unit increase
PlatformIllumina [8520458] (imputed)
CNVN
Mapped traitCystic fibrosis, lung disease severity measurement
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_586, http://www.ebi.ac.uk/efo/EFO_0007744
Study accessionGCST003143