SNP Detail For rs2423279
1.Mapping Information
Human SNP ID rs2423279
Human chromosome chr20
Human SNP position 7831703
Pig chromosome chr16
Pig SNP position 68087484
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
Region20p12.3
Chromosome idchr20
Chromosome position7831703
Reported genePLCB1, HAO1
Mapped geneSRSF10P2
Upstream gene id
Downstream gene id
SNP gene ids171472
Upstream gene distance
Downstream gene distance
SNP risk allelers2423279-C
SNPsrs2423279
Merged0
SNP id current2423279
Contextdownstream_gene_variant
Intergenic0
Allele frequency0.252
P value0.000000007
Pvalue mlog8.15490195998574
P value text
Or beta1.1
%95 Ci[1.06-1.14]
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
Region20p12.3
Chromosome idchr20
Chromosome position7831703
Reported genePLCB1, HAO1
Mapped geneSRSF10P2
Upstream gene id
Downstream gene id
SNP gene ids171472
Upstream gene distance
Downstream gene distance
SNP risk allelers2423279-C
SNPsrs2423279
Merged0
SNP id current2423279
Contextdownstream_gene_variant
Intergenic0
Allele frequency0.302
P value0.0000002
Pvalue mlog6.69897000433601
P value text(East Asian)
Or beta1.14
%95 Ci[1.08-1.19]
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
Region20p12.3
Chromosome idchr20
Chromosome position7831703
Reported geneHAO1
Mapped geneSRSF10P2
Upstream gene id
Downstream gene id
SNP gene ids171472
Upstream gene distance
Downstream gene distance
SNP risk allelers2423279-C
SNPsrs2423279
Merged0
SNP id current2423279
Contextdownstream_gene_variant
Intergenic0
Allele frequency0.31
P value0.000000000003
Pvalue mlog11.5228787452803
P value text(East Asian)
Or beta1.13
%95 Ci[1.09-1.17]
PlatformAffymetrix, Illumina [2400000] (imputed)
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST002454