SNP Detail For rs16969968
1.Mapping Information
Human SNP ID rs16969968
Human chromosome chr15
Human SNP position 78590583
Pig chromosome chr7
Pig SNP position 52780579
2.Annotation Information
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
Region15q25.1
Chromosome idchr15
Chromosome position78590583
Reported geneCHRNA5
Mapped geneCHRNA5
Upstream gene id
Downstream gene id
SNP gene ids1138
Upstream gene distance
Downstream gene distance
SNP risk allelers16969968-A
SNPsrs16969968
Merged0
SNP id current16969968
Contextmissense_variant
Intergenic0
Allele frequency0.578
P value0.000000000000006
Pvalue mlog14.2218487496163
P value text
Or beta0.078
%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
Region15q25.1
Chromosome idchr15
Chromosome position78590583
Reported geneCHRNA5
Mapped geneCHRNA5
Upstream gene id
Downstream gene id
SNP gene ids1138
Upstream gene distance
Downstream gene distance
SNP risk allelers16969968-A
SNPsrs16969968
Merged0
SNP id current16969968
Contextmissense_variant
Intergenic0
Allele frequency0.503
P value0.0000004
Pvalue mlog6.39794000867203
P value text
Or beta0.012
%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/TraitPre bronchodilator FEV1
Initial sample6,659 European ancestry current and former smoker individuals
Replication sampleNA
Region15q25.1
Chromosome idchr15
Chromosome position78590583
Reported geneCHRNA5
Mapped geneCHRNA5
Upstream gene id
Downstream gene id
SNP gene ids1138
Upstream gene distance
Downstream gene distance
SNP risk allelers16969968NR
SNPsrs16969968
Merged0
SNP id current16969968
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta0.07994
%95 Ciunit decrease
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitforced expiratory volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004314
Study accessionGCST003266
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/TraitPre bronchodilator FEV1/FVC ratio
Initial sample6,659 European ancestry current and former smoker individuals
Replication sampleNA
Region15q25.1
Chromosome idchr15
Chromosome position78590583
Reported geneCHRNA5
Mapped geneCHRNA5
Upstream gene id
Downstream gene id
SNP gene ids1138
Upstream gene distance
Downstream gene distance
SNP risk allelers16969968-?
SNPsrs16969968
Merged0
SNP id current16969968
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.0000000002
Pvalue mlog9.69897000433601
P value text
Or beta0.01709
%95 Ciunit decrease
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitFEV/FEC ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST003267
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
Region15q25.1
Chromosome idchr15
Chromosome position78590583
Reported geneCHRNA5
Mapped geneCHRNA5
Upstream gene id
Downstream gene id
SNP gene ids1138
Upstream gene distance
Downstream gene distance
SNP risk allelers16969968-A
SNPsrs16969968
Merged0
SNP id current16969968
Contextmissense_variant
Intergenic0
Allele frequency0.578
P value0.000000000000001
Pvalue mlog15
P value text
Or beta0.017
%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