SNP Detail For rs3101336
1.Mapping Information
Human SNP ID rs3101336
Human chromosome chr1
Human SNP position 72285502
Pig chromosome chr6
Pig SNP position 130276837
2.Annotation Information
PubMed ID23563609
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23563609
StudyGenome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Disease/TraitObesity (early onset extreme)
Initial sample1,509 European ancestry cases, 5,380 European ancestry controls
Replication sample971 European ancestry cases, 1,990 European ancestry controls
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.6
P value0.00000002
Pvalue mlog7.69897000433601
P value text
Or beta1.21
%95 Ci[1.13-1.29]
PlatformAffymetrix [~ 2000000] (imputed)
CNVN
Mapped traitobesity
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001073
Study accessionGCST001957
PubMed ID23563607
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23563607
StudyGenome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Disease/TraitObesity
Initial sample93,015 European ancestry overweight individuals, 32,858 European ancestry class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls
Replication sample65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.61
P value0.0000000000001
Pvalue mlog13
P value text(Obesity class II)
Or beta1.12
%95 Ci[NR]
PlatformAffymetrix, Illumina [~ 2800000] (imputed)
CNVN
Mapped traitobesity
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001073
Study accessionGCST001953
PubMed ID25231870
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25231870
StudyParent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Disease/TraitMenarche (age at onset)
Initial sampleUp to 182,413 European ancestry females
Replication sampleNA
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-T
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.4
P value0.0000000000005
Pvalue mlog12.3010299956639
P value text
Or beta0.04
%95 Ci[0.03-0.05] unit increase
PlatformAffymetrix, Illumina [2441815] (imputed)
CNVN
Mapped traitage at menarche
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004703
Study accessionGCST002541
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
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.614
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text(EA, men)
Or beta0.035
%95 Ci[0.026-0.043] 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
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.611
P value0.00000000000000009
Pvalue mlog16.0457574905606
P value text(EA, women)
Or beta0.033
%95 Ci[0.026-0.041] 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
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.613
P value3E-26
Pvalue mlog25.5228787452803
P value text(EA)
Or beta0.033
%95 Ci[0.027-0.039] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
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
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNEGR1
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequency0.611
P value6E-26
Pvalue mlog25.2218487496163
P value text
Or beta0.032
%95 Ci[0.026-0.038] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
PubMed ID26604143
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26604143
StudyGenome-wide association analysis identifies three new susceptibility loci for childhood body mass index.
Disease/TraitChildhood body mass index
Initial sample34,744 European ancestry children
Replication sample11,313 European ancestry children
Region1p31.1
Chromosome idchr1
Chromosome position72285502
Reported geneNR
Mapped geneLOC105378797
Upstream gene id
Downstream gene id
SNP gene ids105378797
Upstream gene distance
Downstream gene distance
SNP risk allelers3101336-C
SNPsrs3101336
Merged0
SNP id current3101336
Contextupstream_gene_variant
Intergenic0
Allele frequencyNR
P value0.00000004
Pvalue mlog7.39794000867203
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [2499691] (imputed)
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST003177