SNP Detail For rs2276824
1.Mapping Information
Human SNP ID rs2276824
Human chromosome chr3
Human SNP position 52603470
Pig chromosome chr13
Pig SNP position 37949694
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
Region3p21.1
Chromosome idchr3
Chromosome position52603470
Reported genePBRM1
Mapped genePBRM1
Upstream gene id
Downstream gene id
SNP gene ids55193
Upstream gene distance
Downstream gene distance
SNP risk allelers2276824-C
SNPsrs2276824
Merged0
SNP id current2276824
Contextintron_variant
Intergenic0
Allele frequency0.4322
P value0.000000004
Pvalue mlog8.39794000867203
P value text(EA, women)
Or beta0.028
%95 Ci[0.019-0.037] 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
Region3p21.1
Chromosome idchr3
Chromosome position52603470
Reported genePBRM1
Mapped genePBRM1
Upstream gene id
Downstream gene id
SNP gene ids55193
Upstream gene distance
Downstream gene distance
SNP risk allelers2276824-C
SNPsrs2276824
Merged0
SNP id current2276824
Contextintron_variant
Intergenic0
Allele frequency0.4342
P value0.00000000003
Pvalue mlog10.5228787452803
P value text(EA)
Or beta0.0236
%95 Ci[0.017-0.031] 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
Region3p21.1
Chromosome idchr3
Chromosome position52603470
Reported genePBRM1
Mapped genePBRM1
Upstream gene id
Downstream gene id
SNP gene ids55193
Upstream gene distance
Downstream gene distance
SNP risk allelers2276824-C
SNPsrs2276824
Merged0
SNP id current2276824
Contextintron_variant
Intergenic0
Allele frequency0.4283
P value0.00000001
Pvalue mlog8
P value text(women)
Or beta0.0265
%95 Ci[0.017-0.036] 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
Region3p21.1
Chromosome idchr3
Chromosome position52603470
Reported genePBRM1
Mapped genePBRM1
Upstream gene id
Downstream gene id
SNP gene ids55193
Upstream gene distance
Downstream gene distance
SNP risk allelers2276824-C
SNPsrs2276824
Merged0
SNP id current2276824
Contextintron_variant
Intergenic0
Allele frequency0.4332
P value0.00000000007
Pvalue mlog10.1549019599857
P value text
Or beta0.0224
%95 Ci[0.016-0.029] 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