SNP Detail For rs2286963
1.Mapping Information
Human SNP ID rs2286963
Human chromosome chr2
Human SNP position 210195326
Pig chromosome chr15
Pig SNP position 124768190
2.Annotation Information
PubMed ID20037589
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20037589
StudyA genome-wide perspective of genetic variation in human metabolism.
Disease/TraitMetabolite levels
Initial sample1,029 European ancestry individuals
Replication sample1,202 European ancestry individuals
Region2q34
Chromosome idchr2
Chromosome position210195326
Reported geneACADL
Mapped geneACADL
Upstream gene id
Downstream gene id
SNP gene ids33
Upstream gene distance
Downstream gene distance
SNP risk allelers2286963-T
SNPsrs2286963
Merged0
SNP id current2286963
Contextmissense_variant
Intergenic0
Allele frequency0.37
P value3E-60
Pvalue mlog59.5228787452803
P value text(C9/C10:2)
Or beta13.8
%95 Ci[NR] % variance
PlatformAffymetrix [517480]
CNVN
Mapped traitmetabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004725
Study accessionGCST000550
PubMed ID26068415
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26068415
StudyGenome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.
Disease/TraitAcylcarnitine levels
Initial sampleup to 7,478 European ancestry individuals
Replication sample1,182 European ancestry individuals
Region2q34
Chromosome idchr2
Chromosome position210195326
Reported geneCPS1, ACADL
Mapped geneACADL
Upstream gene id
Downstream gene id
SNP gene ids33
Upstream gene distance
Downstream gene distance
SNP risk allelers2286963-T
SNPsrs2286963
Merged0
SNP id current2286963
Contextmissense_variant
Intergenic0
Allele frequency0.6338
P value3E-118
Pvalue mlog117.52287874528
P value text(Nonaylcarnitine)
Or beta0.2057
%95 Ci[0.19-0.22] unit decrease
PlatformAffymetrix, Illumina [at least 296619] (imputed)
CNVN
Mapped traitacylcarnitine measurement, blood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005059, http://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002961