SNP Detail For rs2403254
1.Mapping Information
Human SNP ID rs2403254
Human chromosome chr11
Human SNP position 18303599
Pig chromosome chr2
Pig SNP position 43981295
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
Region11p15.1
Chromosome idchr11
Chromosome position18303599
Reported geneHPS5
Mapped geneHPS5
Upstream gene id
Downstream gene id
SNP gene ids11234
Upstream gene distance
Downstream gene distance
SNP risk allelers2403254-T
SNPsrs2403254
Merged0
SNP id current2403254
Contextintron_variant
Intergenic0
Allele frequency0.525
P value1E-20
Pvalue mlog20
P value text(alpha-hydroxyisovalerate + 6 other traits)
Or beta0.105
%95 Ci[NR] unit decrease
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 levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region11p15.1
Chromosome idchr11
Chromosome position18303599
Reported geneHPS5
Mapped geneHPS5
Upstream gene id
Downstream gene id
SNP gene ids11234
Upstream gene distance
Downstream gene distance
SNP risk allelers2403254-T
SNPsrs2403254
Merged0
SNP id current2403254
Contextintron_variant
Intergenic0
Allele frequency0.55
P value1E-30
Pvalue mlog30
P value text(alpha-hydroxyisovalerate)
Or beta0.041
%95 Ci[0.033-0.049] unit decrease
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443