{{Rsnum
|rsid=4444235
|Chromosome=14
|position=53944201
|Orientation=plus
|GMAF=0.4353
|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 | 19.5 | 49.6 | 31.0
| HCB | 19.3 | 47.4 | 33.3
| JPT | 38.1 | 39.8 | 22.1
| YRI | 8.9 | 37.0 | 54.1
| ASW | 12.3 | 35.1 | 52.6
| CHB | 19.3 | 47.4 | 33.3
| CHD | 16.7 | 56.5 | 26.9
| GIH | 31.0 | 48.0 | 21.0
| LWK | 6.4 | 44.0 | 49.5
| MEX | 20.7 | 50.0 | 29.3
| MKK | 17.9 | 48.7 | 33.3
| TSI | 32.4 | 45.1 | 22.5
| HapMapRevision=28
}}[http://www.nature.com/ng/journal/v40/n12/abs/ng.262.html nature] [[colorectal cancer]]
[[rs4444235]], BMP4; P = 8.1 times 10-10)

{{PMID Auto GWAS
|PMID=19011631
|Trait=Colorectal cancer
|Title=Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
|RiskAllele=C
|Pval=8E-10
|OR=1.11
|ORtxt=[1.08-1.15]
|OA=1
}}

{{omim
|desc=COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8
|id=612589
|rsnum=4444235
}}

{{PharmGKB
|RSID=rs4444235
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19011631; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. (Initial Sample Size: 1,902 cases, 1,929 controls; Replication Sample Size: 4,878 cases, 4,914 controls); (Region: 14q22.2; Reported Gene(s): BMP4; Risk Allele: rs4444235-C); (p-value= 0.0000000008).This variant is associated with Colorectal cancer.
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740335
}}

{{PharmGKB
|RSID=rs4444235
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19011631
|Annotation=A meta-analysis of two GWA studies identified this variant at 14q22.2 (BMP4) as a risk locus for colorectal cancer.
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162360103
}}
{{PMID Auto
|PMID=21119214
|Title=Colorectal Cancer Susceptibility Loci in a Population-Based Study: Associations with Morphological Parameters
|OA=1
}}

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

{{PMID Auto
|PMID=22363440
|Title=cis-Expression QTL Analysis of Established Colorectal Cancer Risk Variants in Colon Tumors and Adjacent Normal Tissue
|OA=1
}}

{{PMID Auto
|PMID=17847004
|Title=Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
|OA=1
}}

{{PMID Auto
|PMID=19639606
|Title=Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
|OA=1
}}

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

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

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

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

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

{{PMID Auto
|PMID=22158048
|Title=The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4.
}}

{{PMID Auto
|PMID=22170598
|Title=Bone morphogenetic protein-4 polymorphism and colorectal cancer risk: a meta analysis.
}}

{{PMID Auto
|PMID=22235025
|Title=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=rs4444235
|overall_frequency_n=56
|overall_frequency_d=128
|overall_frequency=0.4375
|n_genomes=36
|n_genomes_annotated=0
|n_haplomes=47
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23359760
|Title=Single-nucleotide polymorphism associations for colorectal cancer in southern chinese population
|OA=1
}}

{{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=23161572
|Title=BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
}}

{{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=24854447
|Title=Association analysis of colorectal cancer susceptibility variants with gastric cancer in a Chinese Han population
}}

{{PMID Auto
|PMID=24978480
|Title=A Colorectal Cancer Susceptibility New Variant at 4q26 in the Spanish Population Identified by Genome-Wide Association Analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}