SNP Detail For rs12463617
1.Mapping Information
Human SNP ID rs12463617
Human chromosome chr2
Human SNP position 629244
Pig chromosome chr3
Pig SNP position 141870871
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
Region2p25.3
Chromosome idchr2
Chromosome position629244
Reported geneTMEM18
Mapped geneLOC105373352 - LOC105373353
Upstream gene id105373352
Downstream gene id105373353
SNP gene ids
Upstream gene distance67262
Downstream gene distance6393
SNP risk allelers12463617-C
SNPsrs12463617
Merged0
SNP id current12463617
Contextregulatory_region_variant
Intergenic1
Allele frequency0.85
P value0.0000000000002
Pvalue mlog12.698970004336
P value text
Or beta1.42
%95 Ci[1.29-1.56]
PlatformAffymetrix [~ 2000000] (imputed)
CNVN
Mapped traitobesity
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001073
Study accessionGCST001957
PubMed ID23669352
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23669352
StudyGenome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
Disease/TraitBody mass index
Initial sampleUp to 13,627 European ancestry individuals
Replication sampleUp to 16,253 European ancestry individuals
Region2p25.3
Chromosome idchr2
Chromosome position629244
Reported geneTMEM18
Mapped geneLOC105373352 - LOC105373353
Upstream gene id105373352
Downstream gene id105373353
SNP gene ids
Upstream gene distance67262
Downstream gene distance6393
SNP risk allelers12463617-A
SNPsrs12463617
Merged0
SNP id current12463617
Contextregulatory_region_variant
Intergenic1
Allele frequency0.15
P value0.00000000000000003
Pvalue mlog16.5228787452803
P value text
Or beta0.1
%95 Ci[0.076-0.124] unit decrease
PlatformAffymetrix, Illumina [557887] (imputed)
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002021
PubMed ID24861553
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24861553
StudyMeta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
Disease/TraitBody mass index
Initial sample82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals
Replication sampleUp to 47,352 East Asian ancestry individuals
Region2p25.3
Chromosome idchr2
Chromosome position629244
Reported geneTMEM18
Mapped geneLOC105373352 - LOC105373353
Upstream gene id105373352
Downstream gene id105373353
SNP gene ids
Upstream gene distance67262
Downstream gene distance6393
SNP risk allelers12463617-C
SNPsrs12463617
Merged0
SNP id current12463617
Contextregulatory_region_variant
Intergenic1
Allele frequency0.91
P value0.000000000002
Pvalue mlog11.698970004336
P value text
Or beta0.0634
%95 Ci[0.046-0.081] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002461