SNP Detail For rs17391694
1.Mapping Information
Human SNP ID rs17391694
Human chromosome chr1
Human SNP position 78157942
Pig chromosome chr6
Pig SNP position 125299935
2.Annotation Information
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
Region1p31.1
Chromosome idchr1
Chromosome position78157942
Reported geneGIPC2
Mapped geneGIPC2 - MGC27382
Upstream gene id54810
Downstream gene id149047
SNP gene ids
Upstream gene distance19493
Downstream gene distance71657
SNP risk allelers17391694-T
SNPsrs17391694
Merged0
SNP id current17391694
Contextintergenic_variant
Intergenic1
Allele frequency0.12
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta0.042
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [2834208] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000817
PubMed ID23128233
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/23128233
StudyHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Disease/TraitCrohn__s disease
Initial sampleUp to 12,924 European ancestry cases, up to 21,442 European ancestry controls
Replication sampleUp to 25,683 European ancestry cases, up to 17,015 European ancestry controls
Region1p31.1
Chromosome idchr1
Chromosome position78157942
Reported geneintergenic
Mapped geneGIPC2 - MGC27382
Upstream gene id54810
Downstream gene id149047
SNP gene ids
Upstream gene distance19493
Downstream gene distance71657
SNP risk allelers17391694-C
SNPsrs17391694
Merged0
SNP id current17391694
Contextintergenic_variant
Intergenic1
Allele frequency0.889
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta1.134
%95 Ci[1.077-1.194]
PlatformAffymetrix, Illumina [1230000] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST001729
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
Region1p31.1
Chromosome idchr1
Chromosome position78157942
Reported geneNR
Mapped geneGIPC2 - MGC27382
Upstream gene id54810
Downstream gene id149047
SNP gene ids
Upstream gene distance19493
Downstream gene distance71657
SNP risk allelers17391694-A
SNPsrs17391694
Merged0
SNP id current17391694
Contextintergenic_variant
Intergenic1
Allele frequency0.88
P value0.000000003
Pvalue mlog8.52287874528033
P value text(EA)
Or beta1.1264268
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST003044
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
Region1p31.1
Chromosome idchr1
Chromosome position78157942
Reported geneGIPC2
Mapped geneGIPC2 - MGC27382
Upstream gene id54810
Downstream gene id149047
SNP gene ids
Upstream gene distance19493
Downstream gene distance71657
SNP risk allelers17391694-T
SNPsrs17391694
Merged0
SNP id current17391694
Contextintergenic_variant
Intergenic1
Allele frequency0.123
P value0.0000000000000004
Pvalue mlog15.397940008672
P value text
Or beta0.043
%95 Ci[0.033-0.053] unit increase
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647