SNP Detail For rs1351394
1.Mapping Information
Human SNP ID rs1351394
Human chromosome chr12
Human SNP position 65958046
Pig chromosome chr5
Pig SNP position 33510089
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
Region12q14.3
Chromosome idchr12
Chromosome position65958046
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers1351394-T
SNPsrs1351394
Merged0
SNP id current1351394
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.49
P value2E-65
Pvalue mlog64.698970004336
P value text
Or beta0.06
%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 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
Region12q14.3
Chromosome idchr12
Chromosome position65958046
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers1351394-T
SNPsrs1351394
Merged0
SNP id current1351394
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.49
P value7E-32
Pvalue mlog31.1549019599857
P value text
Or beta1.26
%95 Ci[NR]
PlatformAffymetrix, Illumina [~ 2800000] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST001956
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/TraitBirth length
Initial sample28,459 European ancestry individuals
Replication sample16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals
Region12q14.3
Chromosome idchr12
Chromosome position65958046
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers1351394-T
SNPsrs1351394
Merged0
SNP id current1351394
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.498
P value0.0000007
Pvalue mlog6.15490195998574
P value text
Or beta0.044
%95 Ci[0.026-0.062] unit increase
PlatformAffymetrix, Illumina [2201971] (imputed)
CNVN
Mapped traitbody height at birth
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006784
Study accessionGCST002644