Human SNP ID | rs4939827 |
---|---|
Human chromosome | chr18 |
Human SNP position | 48927093 |
Pig chromosome | chr1 |
Pig SNP position | 108094404 |
PubMed ID | 18372901 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18372901 |
Study | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
Disease/Trait | Colorectal cancer |
Initial sample | 981 European ancestry cases, 1,002 European ancestry controls |
Replication sample | 10,287 European ancestry cases, 10,401 European ancestry controls, 4,400 Japanese ancestry cases, 3,179 Japanese ancestry controls, 1,789 cases, 1,771 controls |
Region | 18q21.1 |
Chromosome id | chr18 |
Chromosome position | 48927093 |
Reported gene | SMAD7 |
Mapped gene | SMAD7 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4092 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4939827-T |
SNPs | rs4939827 |
Merged | 0 |
SNP id current | 4939827 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.52 |
P value | 8E-28 |
Pvalue mlog | 27.096910013008 |
P value text | |
Or beta | 1.2 |
%95 Ci | [1.16-1.24] |
Platform | Illumina [541628] |
CNV | N |
Mapped trait | colorectal cancer |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
Study accession | GCST000168 |
PubMed ID | 17934461 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/17934461 |
Study | A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. |
Disease/Trait | Colorectal cancer |
Initial sample | 930 European ancestry cases, 960 European ancestry controls |
Replication sample | 7,473 European ancestry cases, 5,984 European ancestry controls |
Region | 18q21.1 |
Chromosome id | chr18 |
Chromosome position | 48927093 |
Reported gene | SMAD7 |
Mapped gene | SMAD7 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4092 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4939827-T |
SNPs | rs4939827 |
Merged | 0 |
SNP id current | 4939827 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.52 |
P value | 0.000000000001 |
Pvalue mlog | 12 |
P value text | |
Or beta | 1.16 |
%95 Ci | [1.09-1.27] |
Platform | Illumina [547647] |
CNV | N |
Mapped trait | colorectal cancer |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
Study accession | GCST000113 |
PubMed ID | 18372905 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18372905 |
Study | A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. |
Disease/Trait | Colorectal cancer |
Initial sample | 922 European ancestry cases, 927 European ancestry controls |
Replication sample | 17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls |
Region | 18q21.1 |
Chromosome id | chr18 |
Chromosome position | 48927093 |
Reported gene | SMAD7 |
Mapped gene | SMAD7 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4092 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4939827-? |
SNPs | rs4939827 |
Merged | 0 |
SNP id current | 4939827 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.53 |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | |
Or beta | 1.18 |
%95 Ci | [1.10-1.25] |
Platform | Illumina [547647] |
CNV | N |
Mapped trait | colorectal cancer |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
Study accession | GCST000169 |
PubMed ID | 21761138 |
Journal | Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21761138 |
Study | Meta-analysis of new genome-wide association studies of colorectal cancer risk. |
Disease/Trait | Colorectal cancer |
Initial sample | 2,906 European ancestry cases, 3,416 European ancestry controls |
Replication sample | 8,161 European ancestry cases, 9,101 European ancestry controls |
Region | 18q21.1 |
Chromosome id | chr18 |
Chromosome position | 48927093 |
Reported gene | SMAD7 |
Mapped gene | SMAD7 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4092 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4939827-? |
SNPs | rs4939827 |
Merged | 0 |
SNP id current | 4939827 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.51 |
P value | 0.0000001 |
Pvalue mlog | 7 |
P value text | |
Or beta | 1.14 |
%95 Ci | [1.08-1.18] |
Platform | Illumina [378739] |
CNV | N |
Mapped trait | colorectal cancer |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
Study accession | GCST001161 |
PubMed ID | 23266556 |
Journal | Gastroenterology |
Link | www.ncbi.nlm.nih.gov/pubmed/23266556 |
Study | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. |
Disease/Trait | Colorectal cancer |
Initial sample | 12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls |
Replication sample | 958 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 |
Region | 18q21.1 |
Chromosome id | chr18 |
Chromosome position | 48927093 |
Reported gene | SMAD7 |
Mapped gene | SMAD7 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4092 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4939827-? |
SNPs | rs4939827 |
Merged | 0 |
SNP id current | 4939827 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.52 |
P value | 0.0000000002 |
Pvalue mlog | 9.69897000433601 |
P value text | |
Or beta | 1.12 |
%95 Ci | [1.09-1.16] |
Platform | Affymetrix, Illumina [2708280] (imputed) |
CNV | N |
Mapped trait | colorectal cancer |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
Study accession | GCST001787 |
PubMed ID | 26151821 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26151821 |
Study | Genome-wide association study of colorectal cancer identifies six new susceptibility loci. |
Disease/Trait | Colorectal cancer |
Initial sample | 18,299 European ancestry cases, 19,656 European ancestry controls |
Replication sample | 4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls |
Region | 18q21.1 |
Chromosome id | chr18 |
Chromosome position | 48927093 |
Reported gene | SMAD7 |
Mapped gene | SMAD7 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4092 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4939827-T |
SNPs | rs4939827 |
Merged | 0 |
SNP id current | 4939827 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.54 |
P value | 0.000000000000002 |
Pvalue mlog | 14.698970004336 |
P value text | |
Or beta | 1.13 |
%95 Ci | [1.1-1.16] |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | colorectal cancer |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
Study accession | GCST003017 |