SNP Detail For rs272889
1.Mapping Information
Human SNP ID rs272889
Human chromosome chr5
Human SNP position 132329685
Pig chromosome chr2
Pig SNP position 140030790
2.Annotation Information
PubMed ID21886157
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21886157
StudyHuman metabolic individuality in biomedical and pharmaceutical research.
Disease/TraitMetabolic traits
Initial sample2,820 European ancestry individuals
Replication sampleNA
Region5q31.1
Chromosome idchr5
Chromosome position132329685
Reported geneSLC22A4
Mapped geneSLC22A4, LOC553103
Upstream gene id
Downstream gene id
SNP gene ids6583, 553103
Upstream gene distance
Downstream gene distance
SNP risk allelers272889-A
SNPsrs272889
Merged0
SNP id current272889
Contextintron_variant
Intergenic0
Allele frequency0.37
P value0.0000000000000007
Pvalue mlog15.1549019599857
P value text(isovalerylcarnitine + 7 other traits)
Or beta0.084
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [534665]
CNVN
Mapped traitmetabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004725
Study accessionGCST001217
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite ratios
Initial sampleUp to 5,591 European ancestry individuals
Replication sampleUp to 1,767 European ancestry individuals
Region5q31.1
Chromosome idchr5
Chromosome position132329685
Reported geneSLC22A4
Mapped geneSLC22A4, LOC553103
Upstream gene id
Downstream gene id
SNP gene ids6583, 553103
Upstream gene distance
Downstream gene distance
SNP risk allelers272889-A
SNPsrs272889
Merged0
SNP id current272889
Contextintron_variant
Intergenic0
Allele frequency0.37
P value3E-51
Pvalue mlog50.5228787452803
P value text(valine/isovalerylcarnitine)
Or beta0.039
%95 Ci[0.033-0.045] unit decrease
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002442