SNP Detail For rs647161
1.Mapping Information
Human SNP ID rs647161
Human chromosome chr5
Human SNP position 135163402
Pig chromosome chr2
Pig SNP position 142790986
2.Annotation Information
PubMed ID23263487
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23263487
StudyGenome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
Disease/TraitColorectal cancer
Initial sample2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls
Replication sample5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals
Region5q31.1
Chromosome idchr5
Chromosome position135163402
Reported geneCATSPER3, PCBD2, MIR4461 and H2AFY, PITX1
Mapped geneC5orf66
Upstream gene id
Downstream gene id
SNP gene ids100996485
Upstream gene distance
Downstream gene distance
SNP risk allelers647161-A
SNPsrs647161
Merged0
SNP id current647161
Contextintron_variant
Intergenic0
Allele frequency0.667
P value0.0000000001
Pvalue mlog10
P value text
Or beta1.11
%95 Ci[1.08-1.15]
PlatformAffymetrix, Illumina [1636380] (imputed)
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST001792
PubMed ID23263487
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23263487
StudyGenome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
Disease/TraitColorectal cancer
Initial sample2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls
Replication sample5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals
Region5q31.1
Chromosome idchr5
Chromosome position135163402
Reported geneCATSPER3, PCBD2, MIR4461 and H2AFY, PITX1
Mapped geneC5orf66
Upstream gene id
Downstream gene id
SNP gene ids100996485
Upstream gene distance
Downstream gene distance
SNP risk allelers647161-A
SNPsrs647161
Merged0
SNP id current647161
Contextintron_variant
Intergenic0
Allele frequency0.313
P value0.0000000004
Pvalue mlog9.39794000867203
P value text(East Asian)
Or beta1.17
%95 Ci[1.11-1.22]
PlatformAffymetrix, Illumina [1636380] (imputed)
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST001792
PubMed ID24836286
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24836286
StudyLarge-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
Disease/TraitColorectal cancer
Initial sample2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls
Replication sample12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls
Region5q31.1
Chromosome idchr5
Chromosome position135163402
Reported genePITX1
Mapped geneC5orf66
Upstream gene id
Downstream gene id
SNP gene ids100996485
Upstream gene distance
Downstream gene distance
SNP risk allelers647161-A
SNPsrs647161
Merged0
SNP id current647161
Contextintron_variant
Intergenic0
Allele frequency0.31
P value0.00000000000002
Pvalue mlog13.698970004336
P value text(East Asian)
Or beta1.15
%95 Ci[1.11-1.19]
PlatformAffymetrix, Illumina [2400000] (imputed)
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST002454