SNP Detail For rs8756
1.Mapping Information
Human SNP ID rs8756
Human chromosome chr12
Human SNP position 65965972
Pig chromosome chr5
Pig SNP position 33519100
2.Annotation Information
PubMed ID19343178
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19343178
StudyMeta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
Disease/TraitHeight
Initial sample12,611 European ancestry individuals
Replication sample7,187 European ancestry individuals
Region12q14.3
Chromosome idchr12
Chromosome position65965972
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers8756-?
SNPsrs8756
Merged0
SNP id current8756
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.17
P value0.00000000000005
Pvalue mlog13.3010299956639
P value text
Or beta0.08
%95 Ci[0.06-0.10] s.d. decrease
PlatformIllumina [229216]
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000372
PubMed ID20397748
JournalTwin Res Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20397748
StudyGenome-wide association study of height and body mass index in Australian twin families.
Disease/TraitHeight
Initial sample11,536 European ancestry individuals
Replication sampleNA
Region12q14.3
Chromosome idchr12
Chromosome position65965972
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers8756-A
SNPsrs8756
Merged0
SNP id current8756
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.51
P value0.0000004
Pvalue mlog6.39794000867203
P value text
Or beta0.07
%95 Ci[0.03-0.11] SD decrease
PlatformIllumina [559712] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000644
PubMed ID18391951
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18391951
StudyMany sequence variants affecting diversity of adult human height.
Disease/TraitHeight
Initial sample30,968 European ancestry individuals
Replication sample8,541 European ancestry individuals
Region12q14.3
Chromosome idchr12
Chromosome position65965972
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers8756-C
SNPsrs8756
Merged0
SNP id current8756
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.52
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta6.6
%95 Ci[5.03-8.17] % s.d. increase
PlatformAffymetrix, Illumina [up to 304226]
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000175
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
Region12q14.3
Chromosome idchr12
Chromosome position65965972
Reported geneHMGA2
Mapped geneHMGA2
Upstream gene id
Downstream gene id
SNP gene ids8091
Upstream gene distance
Downstream gene distance
SNP risk allelers8756-A
SNPsrs8756
Merged0
SNP id current8756
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.508
P value5E-90
Pvalue mlog89.3010299956639
P value text
Or beta0.059
%95 Ci[0.053-0.065] unit decrease
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647