rs7229639

This is a intron variant variant in the SMAD7 gene.

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GWAS Catalog Trait Associations (1)

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

colorectal cancer

Lu Y et al. “Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.” Gastroenterology 156(5):1455-1466 (2019)
Allele A
OR 1.21
p 2.0e-27
N 70,506
Large GWAS
East Asian
Zeng C et al. “Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.” Gastroenterology 150(7):1633-1645 (2016)
Allele A
OR 1.20
p 3.0e-15
N 21,096
Large GWAS
East Asian
Zhang B et al. “Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.” Nature Genetics 46(6):533-42 (2014)
Allele A
OR 1.20
p 2.0e-8
N 8,270
Large GWAS
multi-ancestry
Ben Zhang et al. “Genome‐wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians” International Journal of Cancer (2014)
Allele A
OR 1.22
p 3.0e-11
N 4,415
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genome‐wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians
AssociationN=19,179Ben Zhang et al.(2014)· International Journal of Cancer

A two-stage genome-wide association study (GWAS) in 19,179 East Asian individuals identified rs7229639 in the SMAD7 gene as a new colorectal cancer (CRC) risk variant with odds ratio (OR) = 1.22 (95% CI: 1.15-1.29, P = 2.93×10^-11). This novel variant is independent of previously reported CRC risk variants (rs4939827, rs58920878, rs12953717, rs4464148) in this region and explains approximately 0.75% of familial CRC risk in East Asians.

Traits studied:Colorectal cancer
PubMedDOIMetascience Observatory

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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