SNP Detail For rs4939827
1.Mapping Information
Human SNP ID rs4939827
Human chromosome chr18
Human SNP position 48927093
Pig chromosome chr1
Pig SNP position 108094404
2.Annotation Information
PubMed ID18372901
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18372901
StudyGenome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
Disease/TraitColorectal cancer
Initial sample981 European ancestry cases, 1,002 European ancestry controls
Replication sample10,287 European ancestry cases, 10,401 European ancestry controls, 4,400 Japanese ancestry cases, 3,179 Japanese ancestry controls, 1,789 cases, 1,771 controls
Region18q21.1
Chromosome idchr18
Chromosome position48927093
Reported geneSMAD7
Mapped geneSMAD7
Upstream gene id
Downstream gene id
SNP gene ids4092
Upstream gene distance
Downstream gene distance
SNP risk allelers4939827-T
SNPsrs4939827
Merged0
SNP id current4939827
Contextintron_variant
Intergenic0
Allele frequency0.52
P value8E-28
Pvalue mlog27.096910013008
P value text
Or beta1.2
%95 Ci[1.16-1.24]
PlatformIllumina [541628]
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST000168
PubMed ID17934461
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17934461
StudyA genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
Disease/TraitColorectal cancer
Initial sample930 European ancestry cases, 960 European ancestry controls
Replication sample7,473 European ancestry cases, 5,984 European ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48927093
Reported geneSMAD7
Mapped geneSMAD7
Upstream gene id
Downstream gene id
SNP gene ids4092
Upstream gene distance
Downstream gene distance
SNP risk allelers4939827-T
SNPsrs4939827
Merged0
SNP id current4939827
Contextintron_variant
Intergenic0
Allele frequency0.52
P value0.000000000001
Pvalue mlog12
P value text
Or beta1.16
%95 Ci[1.09-1.27]
PlatformIllumina [547647]
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST000113
PubMed ID18372905
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18372905
StudyA genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.
Disease/TraitColorectal cancer
Initial sample922 European ancestry cases, 927 European ancestry controls
Replication sample17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls
Region18q21.1
Chromosome idchr18
Chromosome position48927093
Reported geneSMAD7
Mapped geneSMAD7
Upstream gene id
Downstream gene id
SNP gene ids4092
Upstream gene distance
Downstream gene distance
SNP risk allelers4939827-?
SNPsrs4939827
Merged0
SNP id current4939827
Contextintron_variant
Intergenic0
Allele frequency0.53
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta1.18
%95 Ci[1.10-1.25]
PlatformIllumina [547647]
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST000169
PubMed ID21761138
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21761138
StudyMeta-analysis of new genome-wide association studies of colorectal cancer risk.
Disease/TraitColorectal cancer
Initial sample2,906 European ancestry cases, 3,416 European ancestry controls
Replication sample8,161 European ancestry cases, 9,101 European ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48927093
Reported geneSMAD7
Mapped geneSMAD7
Upstream gene id
Downstream gene id
SNP gene ids4092
Upstream gene distance
Downstream gene distance
SNP risk allelers4939827-?
SNPsrs4939827
Merged0
SNP id current4939827
Contextintron_variant
Intergenic0
Allele frequency0.51
P value0.0000001
Pvalue mlog7
P value text
Or beta1.14
%95 Ci[1.08-1.18]
PlatformIllumina [378739]
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST001161
PubMed ID23266556
JournalGastroenterology
Linkwww.ncbi.nlm.nih.gov/pubmed/23266556
StudyIdentification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
Disease/TraitColorectal cancer
Initial sample12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls
Replication sample958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48927093
Reported geneSMAD7
Mapped geneSMAD7
Upstream gene id
Downstream gene id
SNP gene ids4092
Upstream gene distance
Downstream gene distance
SNP risk allelers4939827-?
SNPsrs4939827
Merged0
SNP id current4939827
Contextintron_variant
Intergenic0
Allele frequency0.52
P value0.0000000002
Pvalue mlog9.69897000433601
P value text
Or beta1.12
%95 Ci[1.09-1.16]
PlatformAffymetrix, Illumina [2708280] (imputed)
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST001787
PubMed ID26151821
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26151821
StudyGenome-wide association study of colorectal cancer identifies six new susceptibility loci.
Disease/TraitColorectal cancer
Initial sample18,299 European ancestry cases, 19,656 European ancestry controls
Replication sample4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48927093
Reported geneSMAD7
Mapped geneSMAD7
Upstream gene id
Downstream gene id
SNP gene ids4092
Upstream gene distance
Downstream gene distance
SNP risk allelers4939827-T
SNPsrs4939827
Merged0
SNP id current4939827
Contextintron_variant
Intergenic0
Allele frequency0.54
P value0.000000000000002
Pvalue mlog14.698970004336
P value text
Or beta1.13
%95 Ci[1.1-1.16]
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitcolorectal cancer
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005842
Study accessionGCST003017