{{Rsnum
|rsid=9929218
|Gene=CDH1
|Chromosome=16
|position=68787043
|Orientation=plus
|GMAF=0.2475
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CDH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.5 | 50.0 | 45.5
| HCB | 3.6 | 32.1 | 64.2
| JPT | 2.7 | 29.2 | 68.1
| YRI | 6.8 | 42.9 | 50.3
| ASW | 3.5 | 31.6 | 64.9
| CHB | 3.6 | 32.1 | 64.2
| CHD | 3.7 | 29.6 | 66.7
| GIH | 3.0 | 43.6 | 53.5
| LWK | 5.5 | 40.9 | 53.6
| MEX | 6.9 | 22.4 | 70.7
| MKK | 5.8 | 36.5 | 57.7
| TSI | 5.9 | 47.1 | 47.1
| HapMapRevision=28
}}[http://www.nature.com/ng/journal/v40/n12/abs/ng.262.html nature] [[colorectal cancer]]
[[rs9929218]], CDH1; P = 1.2 times 10-8)

{{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=A
|Pval=1E-8
|OR=1.10
|ORtxt=[1.06-1.12]
|OA=1
}}

{{omim
|desc=COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9
|id=612590
|rsnum=9929218
}}

{{PharmGKB
|RSID=rs9929218
|Name_s=
|Gene_s=CDH1
|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: 16q22.1; Reported Gene(s): CDH1; Risk Allele: rs9929218-A); (p-value= 0.00000001).This variant is associated with Colorectal cancer.
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740334
}}

{{PMID Auto
|PMID=20638935
|Title=Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
}}

{{PharmGKB
|RSID=rs9929218
|Name_s=
|Gene_s=CDH1
|Feature=
|Evidence=PubMed ID:19011631
|Annotation=A meta-analysis of two GWA studies identified this variant at 16q22.1 (CDH1) as a risk locus for colorectal cancer.
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162360104
}}
{{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=18683894
|Title=AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts.
|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=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=rs9929218
|overall_frequency_n=31
|overall_frequency_d=128
|overall_frequency=0.242188
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=30
|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=23114982
|Title=Genome-wide investigation of gene-environment interactions in colorectal cancer
}}

{{PMID Auto
|PMID=23712746
|Title=GENETIC SUSCEPTIBILITY VARIANTS ASSOCIATED WITH COLORECTAL CANCER PROGNOSIS
}}

{{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=24838934
|Title=Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate
}}

{{PMID Auto
|PMID=24875374
|Title=Variation in the Association Between Colorectal Cancer Susceptibility Loci and Colorectal Polyps by Polyp Type
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}