SNP Detail For rs8176749
1.Mapping Information
Human SNP ID rs8176749
Human chromosome chr9
Human SNP position 133255801
Pig chromosome chr6
Pig SNP position 39924756
2.Annotation Information
PubMed ID24586186
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24586186
StudyGenome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Disease/TraitUrinary metabolites (H-NMR features)
Initial sample835 European ancestry individuals
Replication sample601 Brazilian individuals
Region9q34.2
Chromosome idchr9
Chromosome position133255801
Reported geneABO
Mapped geneABO
Upstream gene id
Downstream gene id
SNP gene ids28
Upstream gene distance
Downstream gene distance
SNP risk allelers8176749-C
SNPsrs8176749
Merged0
SNP id current8176749
Contextsynonymous_variant
Intergenic0
Allele frequency0.07
P value0.000000000004
Pvalue mlog11.397940008672
P value text(5.2625, Unknown)
Or beta0.48
%95 Ci[NR] unit increase
PlatformIllumina [713870] (imputed)
CNVN
Mapped traiturinary metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005116
Study accessionGCST002364
PubMed ID23300138
JournalGut
Linkwww.ncbi.nlm.nih.gov/pubmed/23300138
StudyA genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
Disease/TraitTumor biomarkers
Initial sample3,451 Han Chinese ancestry individuals
Replication sample10,326 Chinese ancestry individuals
Region9q34.2
Chromosome idchr9
Chromosome position133255801
Reported geneABO
Mapped geneABO
Upstream gene id
Downstream gene id
SNP gene ids28
Upstream gene distance
Downstream gene distance
SNP risk allelers8176749-T
SNPsrs8176749
Merged0
SNP id current8176749
Contextsynonymous_variant
Intergenic0
Allele frequency0.18
P value7E-105
Pvalue mlog104.154901959985
P value text(CEA)
Or beta0.205
%95 Ci[0.18-0.23] ng/ml increase
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitcancer biomarker measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005127
Study accessionGCST001808