SNP Detail For rs724016
1.Mapping Information
Human SNP ID rs724016
Human chromosome chr3
Human SNP position 141386728
Pig chromosome chr13
Pig SNP position 89971960
2.Annotation Information
PubMed ID18193045
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18193045
StudyCommon variants in the GDF5-UQCC region are associated with variation in human height.
Disease/TraitHeight
Initial sample1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals
Replication sample23,684 European ancestry individuals, 3,860 African American individuals
Region3q23
Chromosome idchr3
Chromosome position141386728
Reported geneZBTB38
Mapped geneZBTB38
Upstream gene id
Downstream gene id
SNP gene ids253461
Upstream gene distance
Downstream gene distance
SNP risk allelers724016-G
SNPsrs724016
Merged0
SNP id current724016
Context5_prime_UTR_variant
Intergenic0
Allele frequency0.36
P value0.000001
Pvalue mlog6
P value text
Or beta0.61
%95 Ci[NR] cm increase
PlatformAffymetrix, Illumina [~ 2261000] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000136
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
Region3q23
Chromosome idchr3
Chromosome position141386728
Reported geneZBTB38
Mapped geneZBTB38
Upstream gene id
Downstream gene id
SNP gene ids253461
Upstream gene distance
Downstream gene distance
SNP risk allelers724016-A
SNPsrs724016
Merged0
SNP id current724016
Context5_prime_UTR_variant
Intergenic0
Allele frequency0.56
P value3E-86
Pvalue mlog85.5228787452803
P value text
Or beta0.07
%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 ID18391950
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18391950
StudyIdentification of ten loci associated with height highlights new biological pathways in human growth.
Disease/TraitHeight
Initial sample15,821 European ancestry individuals
Replication sampleUp to 17,801 European ancestry individuals
Region3q23
Chromosome idchr3
Chromosome position141386728
Reported geneZBTB38
Mapped geneZBTB38
Upstream gene id
Downstream gene id
SNP gene ids253461
Upstream gene distance
Downstream gene distance
SNP risk allelers724016-G
SNPsrs724016
Merged0
SNP id current724016
Context5_prime_UTR_variant
Intergenic0
Allele frequency0.48
P value8E-22
Pvalue mlog21.096910013008
P value text
Or beta0.37
%95 Ci[0.29-0.45] cm increase
PlatformAffymetrix, Illumina [2260683] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000176
PubMed ID26192919
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26192919
StudyAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Disease/TraitCrohn__s disease
Initial sample5,956 European ancestry cases, 14,927 European ancestry controls
Replication sample14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region3q23
Chromosome idchr3
Chromosome position141386728
Reported geneintergenic
Mapped geneZBTB38
Upstream gene id
Downstream gene id
SNP gene ids253461
Upstream gene distance
Downstream gene distance
SNP risk allelers724016-G
SNPsrs724016
Merged0
SNP id current724016
Context5_prime_UTR_variant
Intergenic0
Allele frequency0.4413
P value0.000003
Pvalue mlog5.52287874528033
P value text(EA)
Or beta1.0572861
%95 Ci[1.03-1.08]
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST003044
PubMed ID25281659
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25281659
StudyA novel common variant in DCST2 is associated with length in early life and height in adulthood.
Disease/TraitInfant length
Initial sample28,238 European ancestry individuals
Replication sampleNA
Region3q23
Chromosome idchr3
Chromosome position141386728
Reported geneZBTB38
Mapped geneZBTB38
Upstream gene id
Downstream gene id
SNP gene ids253461
Upstream gene distance
Downstream gene distance
SNP risk allelers724016-A
SNPsrs724016
Merged0
SNP id current724016
Context5_prime_UTR_variant
Intergenic0
Allele frequency0.453
P value0.0000004
Pvalue mlog6.39794000867203
P value text
Or beta0.044
%95 Ci[0.026-0.062] unit decrease
PlatformAffymetrix, Illumina [2193675] (imputed)
CNVN
Mapped traitinfant body height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006785
Study accessionGCST002646
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
Region3q23
Chromosome idchr3
Chromosome position141386728
Reported geneZBTB38
Mapped geneZBTB38
Upstream gene id
Downstream gene id
SNP gene ids253461
Upstream gene distance
Downstream gene distance
SNP risk allelers724016-A
SNPsrs724016
Merged0
SNP id current724016
Context5_prime_UTR_variant
Intergenic0
Allele frequency0.555
P value3E-158
Pvalue mlog157.52287874528
P value text
Or beta0.078
%95 Ci[0.072-0.084] unit decrease
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647