SNP Detail For rs2228213
1.Mapping Information
Human SNP ID rs2228213
Human chromosome chr6
Human SNP position 12124622
Pig chromosome chr7
Pig SNP position 9027005
2.Annotation Information
PubMed ID25673413
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673413
StudyGenetic studies of body mass index yield new insights for obesity biology.
Disease/TraitBody mass index
Initial sampleup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals
Replication sampleup to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828
Region6p24.1
Chromosome idchr6
Chromosome position12124622
Reported geneHIVEP1
Mapped geneHIVEP1
Upstream gene id
Downstream gene id
SNP gene ids3096
Upstream gene distance
Downstream gene distance
SNP risk allelers2228213-G
SNPsrs2228213
Merged0
SNP id current2228213
Contextmissense_variant
Intergenic0
Allele frequency0.649
P value0.000004
Pvalue mlog5.39794000867203
P value text(EA, women)
Or beta0.019
%95 Ci[0.011-0.027] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
PubMed ID25673413
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673413
StudyGenetic studies of body mass index yield new insights for obesity biology.
Disease/TraitBody mass index
Initial sampleup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals
Replication sampleup to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828
Region6p24.1
Chromosome idchr6
Chromosome position12124622
Reported geneHIVEP1
Mapped geneHIVEP1
Upstream gene id
Downstream gene id
SNP gene ids3096
Upstream gene distance
Downstream gene distance
SNP risk allelers2228213-G
SNPsrs2228213
Merged0
SNP id current2228213
Contextmissense_variant
Intergenic0
Allele frequency0.647
P value0.000001
Pvalue mlog6
P value text(EA)
Or beta0.016
%95 Ci[0.0094-0.0224] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
PubMed ID25673413
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673413
StudyGenetic studies of body mass index yield new insights for obesity biology.
Disease/TraitBody mass index
Initial sampleup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals
Replication sampleup to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828
Region6p24.1
Chromosome idchr6
Chromosome position12124622
Reported geneHIVEP1
Mapped geneHIVEP1
Upstream gene id
Downstream gene id
SNP gene ids3096
Upstream gene distance
Downstream gene distance
SNP risk allelers2228213-G
SNPsrs2228213
Merged0
SNP id current2228213
Contextmissense_variant
Intergenic0
Allele frequency0.652
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta0.016
%95 Ci[0.0095-0.0217] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783