SNP Detail For rs4369779
1.Mapping Information
Human SNP ID rs4369779
Human chromosome chr18
Human SNP position 23155444
Pig chromosome chr6
Pig SNP position 100650691
2.Annotation Information
PubMed ID20189936
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20189936
StudyA genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
Disease/TraitHeight
Initial sample19,633 Japanese ancestry individuals
Replication sampleNA
Region18q11.2
Chromosome idchr18
Chromosome position23155444
Reported geneCABLES1
Mapped geneCABLES1
Upstream gene id
Downstream gene id
SNP gene ids91768
Upstream gene distance
Downstream gene distance
SNP risk allelers4369779-T
SNPsrs4369779
Merged0
SNP id current4369779
Contextintron_variant
Intergenic0
Allele frequency0.2
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0.06
%95 Ci[0.04-0.08] cm decrease
PlatformIllumina [420885]
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000611
PubMed ID25865494
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25865494
StudyGenome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.
Disease/TraitSitting height ratio
Initial sample3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men
Replication sampleNA
Region18q11.2
Chromosome idchr18
Chromosome position23155444
Reported geneCABLES1
Mapped geneCABLES1
Upstream gene id
Downstream gene id
SNP gene ids91768
Upstream gene distance
Downstream gene distance
SNP risk allelers4369779-C
SNPsrs4369779
Merged0
SNP id current4369779
Contextintron_variant
Intergenic0
Allele frequency0.79
P value0.0000007
Pvalue mlog6.15490195998574
P value text
Or beta0.06
%95 Ci[0.036-0.084] unit decrease
PlatformAffymetrix, Illumina [up to 10250422] (imputed)
CNVN
Mapped traitsitting height ratio
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007118
Study accessionGCST002843
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
Region18q11.2
Chromosome idchr18
Chromosome position23155444
Reported geneCABLES1
Mapped geneCABLES1
Upstream gene id
Downstream gene id
SNP gene ids91768
Upstream gene distance
Downstream gene distance
SNP risk allelers4369779-T
SNPsrs4369779
Merged0
SNP id current4369779
Contextintron_variant
Intergenic0
Allele frequency0.17
P value5E-24
Pvalue mlog23.3010299956639
P value text
Or beta0.53
%95 Ci[0.52-0.54] 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
Region18q11.2
Chromosome idchr18
Chromosome position23155444
Reported geneCABLES1
Mapped geneCABLES1
Upstream gene id
Downstream gene id
SNP gene ids91768
Upstream gene distance
Downstream gene distance
SNP risk allelers4369779-T
SNPsrs4369779
Merged0
SNP id current4369779
Contextintron_variant
Intergenic0
Allele frequency0.207
P value2E-53
Pvalue mlog52.698970004336
P value text
Or beta0.056
%95 Ci[0.048-0.064] unit decrease
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647