SNP Detail For rs1884897
1.Mapping Information
Human SNP ID rs1884897
Human chromosome chr20
Human SNP position 6632185
Pig chromosome chr17
Pig SNP position 17126397
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
Region20p12.3
Chromosome idchr20
Chromosome position6632185
Reported geneBMP2
Mapped geneCASC20 - LOC105372516
Upstream gene id101929244
Downstream gene id105372516
SNP gene ids
Upstream gene distance103726
Downstream gene distance98606
SNP risk allelers1884897-G
SNPsrs1884897
Merged0
SNP id current1884897
Contextregulatory_region_variant
Intergenic1
Allele frequency0.639
P value0.0000007
Pvalue mlog6.15490195998574
P value text(EA)
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
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
Region20p12.3
Chromosome idchr20
Chromosome position6632185
Reported geneBMP2
Mapped geneCASC20 - LOC105372516
Upstream gene id101929244
Downstream gene id105372516
SNP gene ids
Upstream gene distance103726
Downstream gene distance98606
SNP risk allelers1884897-G
SNPsrs1884897
Merged0
SNP id current1884897
Contextregulatory_region_variant
Intergenic1
Allele frequency0.635
P value0.000001
Pvalue mlog6
P value text
Or beta0.015
%95 Ci[0.0088-0.0206] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
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
Region20p12.3
Chromosome idchr20
Chromosome position6632185
Reported geneBMP2
Mapped geneCASC20 - LOC105372516
Upstream gene id101929244
Downstream gene id105372516
SNP gene ids
Upstream gene distance103726
Downstream gene distance98606
SNP risk allelers1884897-A
SNPsrs1884897
Merged0
SNP id current1884897
Contextregulatory_region_variant
Intergenic1
Allele frequency0.364
P value1E-48
Pvalue mlog48
P value text
Or beta0.044
%95 Ci[0.038-0.05] unit increase
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647