openSNP | rs4939827

Links to SNPedia

Title	Summary
rs4939827 T/T	1x risk for colorectal cancer
rs4939827 C/T	0.86x decreased risk for colorectal cancer
rs4939827 C/C	0.73x decreased risk for colorectal cancer

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Ian P. M. Tomlinson	Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer	2011	10070
Barbara K. Fortini	Multiple Functional Risk Variants in a SMAD7 Enhancer Implicate a Colorectal Cancer Risk Haplotype	2014	2227
Qibin Song	A Common SMAD7 Variant Is Associated with Risk of Colorectal Cancer: Evidence from a Case-Control Study and a Meta-Analysis	2012	3045
Lenora W. M. Loo	cis-Expression QTL Analysis of Established Colorectal Cancer Risk Variants in Colon Tumors and Adjacent Normal Tissue	2012	4745
Lai Fun Thean	Association of Caucasian-Identified Variants with Colorectal Cancer Risk in Singapore Chinese	2012	3268
Xuejuan Jiang	Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry	2013	3412
Pawel Gaj	Pooled Sample-Based GWAS: A Cost-Effective Alternative for Identifying Colorectal and Prostate Cancer Risk Variants in the Polish Population	2012	4915
Iva Kirac	SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population	2013	1896
Linda T. Hiraki	Joint Effects of Colorectal Cancer Susceptibility Loci, Circulating 25-Hydroxyvitamin D and Risk of Colorectal Cancer	2014	1795
Mine S. Cicek	Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22	2012	3738
Lina Zgaga	Model Selection Approach Suggests Causal Association between 25-Hydroxyvitamin D and Colorectal Cancer	2013	2843
Eva J. A. Morris	A Retrospective Observational Study of the Relationship between Single Nucleotide Polymorphisms Associated with the Risk of Developing Colorectal Cancer and Survival	2015	1498
Shuo Jiao	Genome-Wide Search for Gene-Gene Interactions in Colorectal Cancer	2012	3899
Erli Wang	Association of Two Variants in SMAD7 with the Risk of Congenital Heart Disease in the Han Chinese Population	2013	1546
Chih-Yung Yang	Single Nucleotide Polymorphisms Associated with Colorectal Cancer Susceptibility and Loss of Heterozygosity in a Taiwanese Population	2014	2459
Iñigo Landa	An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility	2013	3363
Janelle M. Hoskins	Association of Eleven Common, Low-Penetrance Colorectal Cancer Susceptibility Genetic Variants at Six Risk Loci with Clinical Outcome	2012	2433
Madelyn M. Gerber	Evaluation of Allele-Specific Somatic Changes of Genome-Wide Association Study Susceptibility Alleles in Human Colorectal Cancers	2012	2469
Hanna K. Sanoff	Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer	2014	1011
Jizhun Zhang	Use of Genome-Wide Association Studies for Cancer Research and Drug Repositioning	2015	3552
Byung Woog Kang	Association between GWAS-Identified Genetic Variations and Disease Prognosis for Patients with Colorectal Cancer	2015	1833
Anna Abulí	Genetic Variants Associated with Colorectal Adenoma Susceptibility	2016	1523
Mengmeng Du	Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants	2016	1691
Xiang Jiao	Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population	2018	269
Mala Pande	Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies	2018	238

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Ben Zhang	Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.	2014	2	10.1002/ijc.28733
Ajay Apte	Recognizing multistroke geometric shapes	1993	8	10.1145/168642.168654
Peter Broderick	A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk	2007	12	10.1038/ng.2007.18
Xabier Garcia-Albeniz	Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.	2013	5	10.1093/carcin/bgs335
Ioan Nicolae Mates	Single nucleotide polymorphisms in colorectal cancer: associations with tumor site and TNM stage.	2012	5	-
Martha L Slattery	Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7	2010	1	10.1158/0008-5472.can-08-1792
F Xiong	Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population	2010	2	10.1158/1055-9965.EPI-10-0210
Xin Li	A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population	2011	10	10.1007/s11033-010-0656-3
Yet Hua Loh	SMAD7 and MGMT genotype variants and cancer incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk Study.	2011	2	10.1016/j.canep.2010.09.011
Albert Tenesa	Further analysis at rs7014346 (8q24), rs4939827 (18q21) and rs3802842 (11q23	2006	4	-
C L Thompson	Association of common genetic variants in SMAD7 and risk of colon cancer	2009	3	bgp086 [pii]\r10.1093/carcin/bgp086
Sam Ghazi	Colorectal cancer susceptibility loci in a population-based study: Associations with morphological parameters.	2010	8	10.2353/ajpath.2010.100298
Amanda I Phipps	Association between colorectal cancer susceptibility loci and survival time after diagnosis with colorectal cancer.	2012	4	10.1053/j.gastro.2012.04.052
Qibin Song	A common SMAD7 variant is associated with risk of colorectal cancer: evidence from a case-control study and a meta-analysis.	2012	4	10.1371/journal.pone.0033318
Michael N Passarelli	Common colorectal cancer risk variants in SMAD7 are associated with survival among prediagnostic nonsteroidal anti-inflammatory drug users: A population-based study of postmenopausal women.	2011	5	10.1002/gcc.20913
Cheryl L Thompson	Association of common genetic variants in SMAD7 and risk of colon cancer.	2009	8	10.1093/carcin/bgp086
Peter Broderick	A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.	2007	56	10.1038/ng.2007.18
S von Holst	Association studies on 11 published colorectal cancer risk loci.	2010	26	10.1038/sj.bjc.6605774
Albert Tenesa	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	2008	80	10.1038/ng.133
Ioan Nicolae Mates	Single nucleotide polymorphisms in colorectal cancer: associations with tumor site and TNM stage.	2012	4
Martha L Slattery	Increased risk of colon cancer associated with a genetic polymorphism of SMAD7.	2010	0
Albert Tenesa	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	2008	47	-
Sam Ghazi	Colorectal Cancer Susceptibility Loci in a Population-Based Study	2010	0	10.2353/ajpath.2010.100298
Xabier Garcia-Albeniz	Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.	2013	4	10.1093/carcin/bgs335
Cheryl L Thompson	Association of common genetic variants in SMAD7 and risk of colon cancer	2009	0	10.1093/carcin/bgp086
F Xiong	Risk of Genome-Wide Association Study–Identified Genetic Variants for Colorectal Cancer in a Chinese Population	2010	1
Iina Niittymäki	Low-penetrance susceptibility variants in familial colorectal cancer.	2010	6	10.1158/1055-9965.EPI-09-1320
Martha L Slattery	Increased risk of colon cancer associated with a genetic polymorphism of SMAD7.	2010	15	10.1158/0008-5472.CAN-08-1792
A Tenesa	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	2008	8	10.1038/ng.133
Karen Curtin	Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.	2009	9	-
Aung Ko Win	Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?	2013	7	10.1016/j.ejca.2013.01.029
María Dolores Giráldez	Susceptibility genetic variants associated with early-onset colorectal cancer.	2012	9	10.1093/carcin/bgs009
Carolyn M Hutter	Characterization of gene-environment interactions for colorectal cancer susceptibility loci.	2012	11	10.1158/0008-5472.CAN-11-4067
Amanda I. Phipps	Association between colorectal cancer susceptibility loci and survival time after diagnosis with colorectal cancer	2012	4	10.1053/j.gastro.2012.04.052
Y. Zheng	Abstract B73: Body mass index modifies the association between SMAD7 polymorphism rs4939827 and colorectal cancer risk	2010	1	10.1158/1940-6207.PREV-10-B73
Iva Kirac	SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population	2013	2	10.1371/journal.pone.0074042
Peter Broderick	A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.	2007	40	-
Xabier Garcia-Albeniz	Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.	2013	2	10.1093/carcin/bgs335
Qibin Song	A common SMAD7 variant is associated with risk of colorectal cancer: Evidence from a case-control study and a meta-analysis	2012	5	10.1371/journal.pone.0033318
R Cui	Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population	2011	14	10.1136/gut.2010.215947
Karen Curtin	Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.	2009	9	10.1158/1055-9965.EPI-08-0690
Michael N Passarelli	Common colorectal cancer risk variants in SMAD7 are associated with survival among prediagnostic nonsteroidal anti-inflammatory drug users: A population-based study of postmenopausal women.	2011	0	10.1002/gcc.20913
Cheryl L Thompson	Association of common genetic variants in SMAD7 and risk of colon cancer.	2009	1	10.1093/carcin/bgp086
Fang Xiong	Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population.	2010	7	10.1158/1055-9965.EPI-10-0210
Fang Xiong	Risk of Genome-Wide Association Study − Identified Genetic Variants for Colorectal Cancer in a Chinese Population	2010	1	10.1158/1055-9965.EPI-10-0210
Qibin Song	A common SMAD7 variant is associated with risk of colorectal cancer: evidence from a case-control study and a meta-analysis.	2012	3	10.1371/journal.pone.0033318

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Tenesa A	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	Nat Genet	03/30/2008	Colorectal cancer	8.0e-28	[1.16-1.24]
Broderick P	A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.	Nat Genet	10/14/2007	Colorectal cancer	1.0e-12	[1.09-1.27]

Name	rs4939827
Chromosome	18
Position	48927093
Weight of evidence	115

SNP rs4939827

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts