SNP Detail For rs2284746
1.Mapping Information
Human SNP ID rs2284746
Human chromosome chr1
Human SNP position 16980180
Pig chromosome chr6
Pig SNP position 69928059
2.Annotation Information
PubMed ID21946350
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21946350
StudyGenome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
Disease/TraitPulmonary function
Initial sample48,201 European ancestry individuals
Replication sample46,411 European ancestry individuals
Region1p36.13
Chromosome idchr1
Chromosome position16980180
Reported geneMFAP2
Mapped geneMFAP2
Upstream gene id
Downstream gene id
SNP gene ids4237
Upstream gene distance
Downstream gene distance
SNP risk allelers2284746-G
SNPsrs2284746
Merged0
SNP id current2284746
Contextintron_variant
Intergenic0
Allele frequency0.52
P value0.0000000000000008
Pvalue mlog15.096910013008
P value text(FEV1/FVC)
Or beta0.04
%95 Ci[0.030-0.050] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitpulmonary function measurement, FEV/FEC ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST001248
PubMed ID20881960
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20881960
StudyHundreds of variants clustered in genomic loci and biological pathways affect human height.
Disease/TraitHeight
Initial sample133,653 European ancestry individuals
Replication sample50,074 European ancestry individuals
Region1p36.13
Chromosome idchr1
Chromosome position16980180
Reported geneMFAP2
Mapped geneMFAP2
Upstream gene id
Downstream gene id
SNP gene ids4237
Upstream gene distance
Downstream gene distance
SNP risk allelers2284746-C
SNPsrs2284746
Merged0
SNP id current2284746
Contextintron_variant
Intergenic0
Allele frequency0.48
P value4E-29
Pvalue mlog28.397940008672
P value text
Or beta0.04
%95 Ci[NR] unit decrease
PlatformAffymetrix, Illumina [2834208] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000817
PubMed ID23284291
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23284291
StudyGenome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
Disease/TraitPulmonary function (interaction)
Initial sample50,047 European ancestry individuals
Replication sampleNA
Region1p36.13
Chromosome idchr1
Chromosome position16980180
Reported geneMFAP2
Mapped geneMFAP2
Upstream gene id
Downstream gene id
SNP gene ids4237
Upstream gene distance
Downstream gene distance
SNP risk allelers2284746-?
SNPsrs2284746
Merged0
SNP id current2284746
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000000002
Pvalue mlog10.698970004336
P value text(FEV1/FVC, Pack-years)
Or beta
%95 Ci
PlatformNR [~ 2500000] (imputed)
CNVN
Mapped traitFEV/FEC ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004713
Study accessionGCST001784
PubMed ID23563607
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23563607
StudyGenome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Disease/TraitHeight
Initial sample8,097 European ancestry tall individuals, 8,099 European ancestry short individuals
Replication sample4,872 European ancestry tall individuals, 4,831 European ancestry short individuals
Region1p36.13
Chromosome idchr1
Chromosome position16980180
Reported geneMFAP2
Mapped geneMFAP2
Upstream gene id
Downstream gene id
SNP gene ids4237
Upstream gene distance
Downstream gene distance
SNP risk allelers2284746-G
SNPsrs2284746
Merged0
SNP id current2284746
Contextintron_variant
Intergenic0
Allele frequency0.52
P value0.000000000000005
Pvalue mlog14.3010299956639
P value text
Or beta1.17
%95 Ci[NR]
PlatformAffymetrix, Illumina [~ 2800000] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST001956
PubMed ID25429064
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25429064
StudyMeta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
Disease/TraitHeight
Initial sample36,227 East Asian ancestry individuals
Replication sample57,699 East Asian ancestry individuals
Region1p36.13
Chromosome idchr1
Chromosome position16980180
Reported geneMFAP2
Mapped geneMFAP2
Upstream gene id
Downstream gene id
SNP gene ids4237
Upstream gene distance
Downstream gene distance
SNP risk allelers2284746-C
SNPsrs2284746
Merged0
SNP id current2284746
Contextintron_variant
Intergenic0
Allele frequency0.72
P value2E-25
Pvalue mlog24.698970004336
P value text
Or beta0.06
%95 Ci[0.046-0.074] unit decrease
PlatformAffymetrix, Illumina [2704730] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002702
PubMed ID25282103
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25282103
StudyDefining the role of common variation in the genomic and biological architecture of adult human height.
Disease/TraitHeight
Initial sample253,288 European ancestry individuals
Replication sample80,067 European ancestry individuals
Region1p36.13
Chromosome idchr1
Chromosome position16980180
Reported geneMFAP2
Mapped geneMFAP2
Upstream gene id
Downstream gene id
SNP gene ids4237
Upstream gene distance
Downstream gene distance
SNP risk allelers2284746-C
SNPsrs2284746
Merged0
SNP id current2284746
Contextintron_variant
Intergenic0
Allele frequency0.475
P value1E-40
Pvalue mlog40
P value text
Or beta0.04
%95 Ci[0.034-0.046] unit decrease
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647