rs11874392

This variant is located in the SMAD7 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

colorectal cancer, colorectal adenoma

Huyghe JR et al. “Discovery of common and rare genetic risk variants for colorectal cancer.” Nature Genetics 51(1):76-87 (2019)
Allele A
OR 1.17
p 4.0e-74
N 125,478
Large GWAS
multi-ancestry

benign colon neoplasm

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.08
p 2.0e-57
N 561,237
Major Consortium StudyLarge GWAS
multi-ancestry

polyp of colon

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.10
p 5.0e-28
N 525,237
Large GWAS
multi-ancestry

colon carcinoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.10
p 2.0e-11
N 447,221
Major Consortium StudyLarge GWAS
European

colorectal cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.10
p 1.0e-13
N 626,755
Major Consortium StudyLarge GWAS
multi-ancestry
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 0.84
p 2.0e-20
N 202,807
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.18
p 6.0e-25
N 167,691
Large GWAS
East Asian
Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)
Allele T
OR 0.84
p 4.0e-18
N 156,537
Large GWAS
East Asian
Laskar RS et al. “Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.” Annals of Oncology : Official Journal of the European Society for Medical Oncology 35(6):523-536 (2024)
Allele T
OR 1.19
p 1.0e-18
N 72,005
Large GWAS
European

About SMAD7

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

View all SMAD7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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