SNP Detail For rs7671167
1.Mapping Information
Human SNP ID rs7671167
Human chromosome chr4
Human SNP position 88962828
Pig chromosome chr8
Pig SNP position 139556439
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
Region4q22.1
Chromosome idchr4
Chromosome position88962828
Reported geneFAM13A
Mapped geneFAM13A
Upstream gene id
Downstream gene id
SNP gene ids10144
Upstream gene distance
Downstream gene distance
SNP risk allelers7671167-?
SNPsrs7671167
Merged0
SNP id current7671167
Contextintron_variant
Intergenic0
Allele frequency0.48
P value0.00000000001
Pvalue mlog11
P value text
Or beta1.32
%95 Ci[1.19-1.47]
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
Region4q22.1
Chromosome idchr4
Chromosome position88962828
Reported geneFAM13A
Mapped geneFAM13A
Upstream gene id
Downstream gene id
SNP gene ids10144
Upstream gene distance
Downstream gene distance
SNP risk allelers7671167-T
SNPsrs7671167
Merged0
SNP id current7671167
Contextintron_variant
Intergenic0
Allele frequency0.468
P value0.00000009
Pvalue mlog7.04575749056067
P value text
Or beta0.046
%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
Region4q22.1
Chromosome idchr4
Chromosome position88962828
Reported geneFAM13A
Mapped geneFAM13A
Upstream gene id
Downstream gene id
SNP gene ids10144
Upstream gene distance
Downstream gene distance
SNP risk allelers7671167-T
SNPsrs7671167
Merged0
SNP id current7671167
Contextintron_variant
Intergenic0
Allele frequency0.467
P value0.0000000002
Pvalue mlog9.69897000433601
P value text
Or beta0.011
%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