{{Rsnum
|rsid=4779584
|Chromosome=15
|position=32702555
|Orientation=plus
|GMAF=0.4578
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 71.7 | 23.0 | 5.3
| HCB | 3.7 | 28.7 | 67.6
| JPT | 3.5 | 29.2 | 67.3
| YRI | 13.7 | 50.0 | 36.3
| ASW | 21.4 | 46.4 | 32.1
| CHB | 3.7 | 28.7 | 67.6
| CHD | 1.8 | 27.5 | 70.6
| GIH | 35.0 | 46.0 | 19.0
| LWK | 17.4 | 50.5 | 32.1
| MEX | 44.8 | 37.9 | 17.2
| MKK | 44.5 | 42.6 | 12.9
| TSI | 60.0 | 38.0 | 2.0
| HapMapRevision=28
}}A study of 7000+ UK patients with [[colorectal cancer]] identified two SNPs that increase disease risk, one of which is [[rs4779584]]. Inheriting the [[rs4779584]](T) risk allele is estimated to increase overall risk odds by 1.26x (CI: 1.19-1.34, p=4x10e-14). When analyzing data between genotypes, the odds ratios reported for heterozygotes was 1.23x (CI:1.13-1.33), and for [[rs4779584]](T;T) homozygotes, 1.70 (CI: 1.41-2.04).{{PMID|18084292}}

Inheriting the risk variant at both SNP loci (i.e. [[rs4779584]] and [[rs6983267]]) is estimated to increase the overall risk of developing [[colorectal cancer]] about 3 fold. The authors of this study are quoted as saying that "the lifetime risk [of bowel cancer] is about 5% in the UK so it's going up to 7% or so if you've got both bad copies of a variant." [http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.2007.41.html nature]

{{PMID Auto GWAS
|PMID=18372905
|Trait=Colorectal cancer
|Title=A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3
|RiskAllele=
|Pval=4.9999999999999998E-7
|OR=1.23
|ORtxt=[1.14-1.34]
}}

{{omim
|desc=POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1
|id=601228
|rsnum=4779584
}}
{{PMID Auto
|PMID=19843678
|Title=Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort
}}

{{PMID Auto
|PMID=21097774
|Title=Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
}}
{{PMID Auto
|PMID=21119214
|Title=Colorectal Cancer Susceptibility Loci in a Population-Based Study: Associations with Morphological Parameters
|OA=1
}}
{{PMID Auto
|PMID=21179028
|Title=Replication study of SNP associations for colorectal cancer in Hong Kong Chinese
|OA=1
}}

{{PMID Auto
|PMID=21655089
|Title=Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer
|OA=1
}}

{{PMID Auto GWAS
|PMID=21761138
|Trait=None
|Title=Meta-analysis of new genome-wide association studies of colorectal cancer risk.
|RiskAllele=
|Pval=2E-8
|OR=1.1800
|ORtxt=[1.11-1.24]
|OA=1
}}

{{PMID Auto
|PMID=22367214
|Title=Characterization of gene-environment interactions for colorectal cancer susceptibility loci
|OA=1
}}

{{PMID|19011631|OA=1
}} Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

{{PMID|20437058|OA=1
}} The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.

{{PMID|20501757|OA=1
}} Low-penetrance susceptibility variants in familial colorectal cancer.

{{PMID|20648012|OA=1
}} Association studies on 11 published colorectal cancer risk loci.

{{PMID|21071539|OA=1
}} Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.

{{PMID|21314996|OA=1
}} Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

{{PMID|21402474}} GWAS-identified colorectal cancer susceptibility locus associates with disease prognosis.

{{PMID|22045029}} Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.

{{PMID|22235025}} Susceptibility genetic variants associated with early-onset colorectal cancer.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4779584
|overall_frequency_n=80
|overall_frequency_d=128
|overall_frequency=0.625
|n_genomes=40
|n_genomes_annotated=0
|n_haplomes=63
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23266556
  |Trait=Colorectal cancer
  |Title=Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-wide Meta-analysis.
  |RiskAllele=
  |Pval=5E-7
  |OR=1.12
  |ORtxt=[1.08-1.19]
  |OA=1
}}

{{PMID Auto
|PMID=23875689
|Title=Colorectal Cancer-Susceptibility Single Nucleotide Polymorphisms in Korean Population
}}

{{PMID Auto
|PMID=22848671
|Title=Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
|OA=1
}}

{{PMID Auto
|PMID=22999960
|Title=Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.
|OA=1
}}

{{PMID Auto
|PMID=23434150
|Title=Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
|OA=1
}}

{{PMID Auto
|PMID=24753543
|Title=Shared and Independent Colorectal Cancer Risk Alleles in TGFβ-related Genes in African and European Americans
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}