SNP Detail For rs13118928
1.Mapping Information
Human SNP ID rs13118928
Human chromosome chr4
Human SNP position 144565237
Pig chromosome chr8
Pig SNP position 89011781
2.Annotation Information
PubMed ID20173748
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20173748
StudyVariants in FAM13A are associated with chronic obstructive pulmonary disease.
Disease/TraitChronic obstructive pulmonary disease
Initial sample2,940 European ancestry cases, 1,380 European ancestry controls
Replication sample502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls
Region4q31.21
Chromosome idchr4
Chromosome position144565237
Reported geneHHIP
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2732
Downstream gene distance7001
SNP risk allelers13118928-?
SNPsrs13118928
Merged0
SNP id current13118928
Contextintergenic_variant
Intergenic1
Allele frequency0.4
P value0.0000005
Pvalue mlog6.30102999566398
P value text
Or beta1.25
%95 Ci[1.14-1.37]
PlatformIllumina [499578]
CNVN
Mapped traitchronic obstructive pulmonary disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341
Study accessionGCST000603
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 position144565237
Reported geneIntergenic
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2732
Downstream gene distance7001
SNP risk allelers13118928-A
SNPsrs13118928
Merged0
SNP id current13118928
Contextintergenic_variant
Intergenic1
Allele frequency0.586
P value0.000000000001
Pvalue mlog12
P value text
Or beta0.067
%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 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 position144565237
Reported geneIntergenic
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2732
Downstream gene distance7001
SNP risk allelers13118928-A
SNPsrs13118928
Merged0
SNP id current13118928
Contextintergenic_variant
Intergenic1
Allele frequency0.502
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0.011
%95 CiNR unit decrease
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/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 position144565237
Reported geneIntergenic
Mapped geneLOC105377462 - KRT18P51
Upstream gene id105377462
Downstream gene id391703
SNP gene ids
Upstream gene distance2732
Downstream gene distance7001
SNP risk allelers13118928-A
SNPsrs13118928
Merged0
SNP id current13118928
Contextintergenic_variant
Intergenic1
Allele frequency0.587
P value0.0000000000000003
Pvalue mlog15.5228787452803
P value text
Or beta0.016
%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