SNP Detail For rs2245368
1.Mapping Information
Human SNP ID rs2245368
Human chromosome chr7
Human SNP position 76978826
Pig chromosome chr3
Pig SNP position 9788458
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
Region7q11.23
Chromosome idchr7
Chromosome position76978826
Reported genePMS2L11
Mapped geneLOC105375361 - DTX2P1-UPK3BP1-PMS2P11
Upstream gene id105375361
Downstream gene id441263
SNP gene ids
Upstream gene distance1605
Downstream gene distance1996
SNP risk allelers2245368-C
SNPsrs2245368
Merged0
SNP id current2245368
Contextnon_coding_transcript_exon_variant
Intergenic1
Allele frequency0.18
P value0.000001
Pvalue mlog6
P value text(EA, men)
Or beta0.034
%95 Ci[0.02-0.048] 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
Region7q11.23
Chromosome idchr7
Chromosome position76978826
Reported genePMS2L11
Mapped geneLOC105375361 - DTX2P1-UPK3BP1-PMS2P11
Upstream gene id105375361
Downstream gene id441263
SNP gene ids
Upstream gene distance1605
Downstream gene distance1996
SNP risk allelers2245368-C
SNPsrs2245368
Merged0
SNP id current2245368
Contextnon_coding_transcript_exon_variant
Intergenic1
Allele frequency0.18
P value0.00000003
Pvalue mlog7.52287874528033
P value text(EA)
Or beta0.032
%95 Ci[0.021-0.043] 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
Region7q11.23
Chromosome idchr7
Chromosome position76978826
Reported genePMS2L11
Mapped geneLOC105375361 - DTX2P1-UPK3BP1-PMS2P11
Upstream gene id105375361
Downstream gene id441263
SNP gene ids
Upstream gene distance1605
Downstream gene distance1996
SNP risk allelers2245368-C
SNPsrs2245368
Merged0
SNP id current2245368
Contextnon_coding_transcript_exon_variant
Intergenic1
Allele frequency0.19
P value0.00000007
Pvalue mlog7.15490195998574
P value text
Or beta0.029
%95 Ci[0.018-0.039] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783