SNP Detail For rs379123
1.Mapping Information
Human SNP ID rs379123
Human chromosome chr17
Human SNP position 32564796
Pig chromosome chr12
Pig SNP position 44171890
2.Annotation Information
PubMed ID25006744
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/25006744
StudyGenome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
Disease/TraitLocal histogram emphysema pattern
Initial sample3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases
Replication sampleNA
Region17q11.2
Chromosome idchr17
Chromosome position32564796
Reported geneMYO1D
Mapped geneMYO1D
Upstream gene id
Downstream gene id
SNP gene ids4642
Upstream gene distance
Downstream gene distance
SNP risk allelers379123-T
SNPsrs379123
Merged0
SNP id current379123
Contextintron_variant
Intergenic0
Allele frequency0.59
P value0.00000002
Pvalue mlog7.69897000433601
P value text(Severe Centrilobular)
Or beta0.005
%95 Ci[0.0030-0.0070] unit decrease
PlatformIllumina [6942916] (imputed)
CNVN
Mapped traitemphysema pattern measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005850
Study accessionGCST002525
PubMed ID25006744
JournalAm J Respir Crit Care Med
Linkwww.ncbi.nlm.nih.gov/pubmed/25006744
StudyGenome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
Disease/TraitLocal histogram emphysema pattern
Initial sample3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases
Replication sampleNA
Region17q11.2
Chromosome idchr17
Chromosome position32564796
Reported geneMYO1D
Mapped geneMYO1D
Upstream gene id
Downstream gene id
SNP gene ids4642
Upstream gene distance
Downstream gene distance
SNP risk allelers379123-T
SNPsrs379123
Merged0
SNP id current379123
Contextintron_variant
Intergenic0
Allele frequency0.59
P value0.000002
Pvalue mlog5.69897000433601
P value text(Severe Centrilobular, EA)
Or beta0.005
%95 Ci[0.0030-0.0070] unit decrease
PlatformIllumina [6942916] (imputed)
CNVN
Mapped traitemphysema pattern measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005850
Study accessionGCST002525