SNP Detail For rs2236164
1.Mapping Information
Human SNP ID rs2236164
Human chromosome chr20
Human SNP position 35509524
Pig chromosome chr17
Pig SNP position 43985141
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
Region20q11.22
Chromosome idchr20
Chromosome position35509524
Reported geneUQCC, GDF5
Mapped geneCEP250
Upstream gene id
Downstream gene id
SNP gene ids11190
Upstream gene distance
Downstream gene distance
SNP risk allelers2236164-C
SNPsrs2236164
Merged0
SNP id current2236164
Contextintron_variant
Intergenic0
Allele frequency0.22
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta0.06
%95 Ci[0.04-0.08] cm increase
PlatformIllumina [420885]
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000611
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
Region20q11.22
Chromosome idchr20
Chromosome position35509524
Reported geneCEP250
Mapped geneCEP250
Upstream gene id
Downstream gene id
SNP gene ids11190
Upstream gene distance
Downstream gene distance
SNP risk allelers2236164-T
SNPsrs2236164
Merged0
SNP id current2236164
Contextintron_variant
Intergenic0
Allele frequency0.7
P value3E-24
Pvalue mlog23.5228787452803
P value text
Or beta0.053
%95 Ci[0.039-0.067] unit decrease
PlatformAffymetrix, Illumina [2704730] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002702