SNP Detail For rs2070755
1.Mapping Information
Human SNP ID rs2070755
Human chromosome chr20
Human SNP position 57562984
Pig chromosome chr17
Pig SNP position 65096938
2.Annotation Information
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
Region20q13.31
Chromosome idchr20
Chromosome position57562984
Reported genePCK1
Mapped genePCK1
Upstream gene id
Downstream gene id
SNP gene ids5105
Upstream gene distance
Downstream gene distance
SNP risk allelers2070755-C
SNPsrs2070755
Merged
SNP id current2070755
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.0000005
Pvalue mlog6.30102999566398
P value text(%LAA-950, All)
Or beta0.11
%95 Ci[0.018-0.202] 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
Region20q13.31
Chromosome idchr20
Chromosome position57562984
Reported genePCK1
Mapped genePCK1
Upstream gene id
Downstream gene id
SNP gene ids5105
Upstream gene distance
Downstream gene distance
SNP risk allelers2070755-C
SNPsrs2070755
Merged
SNP id current2070755
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.0000009
Pvalue mlog6.04575749056067
P value text(Perc15, All)
Or beta2.5
%95 Ci[0.34-4.66] unit decrease
PlatformIllumina [7600000] (imputed)
CNVN
Mapped traitemphysema imaging measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007626
Study accessionGCST002945