SNP Detail For rs12454712
1.Mapping Information
Human SNP ID rs12454712
Human chromosome chr18
Human SNP position 63178651
Pig chromosome chr1
Pig SNP position 175946946
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
Region18q21.33
Chromosome idchr18
Chromosome position63178651
Reported geneBCL2
Mapped geneBCL2
Upstream gene id
Downstream gene id
SNP gene ids596
Upstream gene distance
Downstream gene distance
SNP risk allelers12454712-C
SNPsrs12454712
Merged0
SNP id current12454712
Contextintron_variant
Intergenic0
Allele frequency0.397
P value0.000006
Pvalue mlog5.22184874961635
P value text
Or beta0.017
%95 Ci[0.0095-0.0241] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
PubMed ID25673412
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673412
StudyNew genetic loci link adipose and insulin biology to body fat distribution.
Disease/TraitWaist-to-hip ratio adjusted for body mass index
Initial sampleup to 56,910 European ancestry men, up to 86,570 European ancestry women
Replication sampleup to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestr
Region18q21.33
Chromosome idchr18
Chromosome position63178651
Reported geneBCL2
Mapped geneBCL2
Upstream gene id
Downstream gene id
SNP gene ids596
Upstream gene distance
Downstream gene distance
SNP risk allelers12454712-T
SNPsrs12454712
Merged0
SNP id current12454712
Contextintron_variant
Intergenic0
Allele frequency0.6089
P value0.000000001
Pvalue mlog9
P value text(EA, women)
Or beta0.0347
%95 Ci[0.024-0.046] unit increase
PlatformAffymetrix, Illumina, Perlegen [up to 2542447] (imputed)
CNVN
Mapped traitwaist-hip ratio, body mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004343, http://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002782
PubMed ID25673412
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673412
StudyNew genetic loci link adipose and insulin biology to body fat distribution.
Disease/TraitWaist-to-hip ratio adjusted for body mass index
Initial sampleup to 56,910 European ancestry men, up to 86,570 European ancestry women
Replication sampleup to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestr
Region18q21.33
Chromosome idchr18
Chromosome position63178651
Reported geneBCL2
Mapped geneBCL2
Upstream gene id
Downstream gene id
SNP gene ids596
Upstream gene distance
Downstream gene distance
SNP risk allelers12454712-T
SNPsrs12454712
Merged0
SNP id current12454712
Contextintron_variant
Intergenic0
Allele frequency0.6149
P value0.000000003
Pvalue mlog8.52287874528033
P value text(women)
Or beta0.0329
%95 Ci[0.022-0.044] unit increase
PlatformAffymetrix, Illumina, Perlegen [up to 2542447] (imputed)
CNVN
Mapped traitwaist-hip ratio, body mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004343, http://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002782