SNP Detail For rs1128249
1.Mapping Information
Human SNP ID rs1128249
Human chromosome chr2
Human SNP position 164672114
Pig chromosome chr15
Pig SNP position 79596081
2.Annotation Information
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
Region2q24.3
Chromosome idchr2
Chromosome position164672114
Reported geneCOBLL1
Mapped geneLOC101929615 - COBLL1
Upstream gene id101929615
Downstream gene id22837
SNP gene ids
Upstream gene distance4218
Downstream gene distance8071
SNP risk allelers1128249-G
SNPsrs1128249
Merged0
SNP id current1128249
Contextintron_variant
Intergenic1
Allele frequency0.5949
P value2E-29
Pvalue mlog28.698970004336
P value text(EA, women)
Or beta0.052
%95 Ci[0.043-0.061] 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
Region2q24.3
Chromosome idchr2
Chromosome position164672114
Reported geneCOBLL1
Mapped geneLOC101929615 - COBLL1
Upstream gene id101929615
Downstream gene id22837
SNP gene ids
Upstream gene distance4218
Downstream gene distance8071
SNP risk allelers1128249-G
SNPsrs1128249
Merged0
SNP id current1128249
Contextintron_variant
Intergenic1
Allele frequency0.5973
P value0.000000000000002
Pvalue mlog14.698970004336
P value text(EA)
Or beta0.0276
%95 Ci[0.021-0.034] 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
Region2q24.3
Chromosome idchr2
Chromosome position164672114
Reported geneCOBLL1
Mapped geneLOC101929615 - COBLL1
Upstream gene id101929615
Downstream gene id22837
SNP gene ids
Upstream gene distance4218
Downstream gene distance8071
SNP risk allelers1128249-G
SNPsrs1128249
Merged0
SNP id current1128249
Contextintron_variant
Intergenic1
Allele frequency0.5846
P value5E-31
Pvalue mlog30.3010299956639
P value text(women)
Or beta0.0526
%95 Ci[0.044-0.061] 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
Region2q24.3
Chromosome idchr2
Chromosome position164672114
Reported geneCOBLL1
Mapped geneLOC101929615 - COBLL1
Upstream gene id101929615
Downstream gene id22837
SNP gene ids
Upstream gene distance4218
Downstream gene distance8071
SNP risk allelers1128249-G
SNPsrs1128249
Merged0
SNP id current1128249
Contextintron_variant
Intergenic1
Allele frequency0.5884
P value0.0000000000000001
Pvalue mlog16
P value text
Or beta0.0283
%95 Ci[0.022-0.035] 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