rs4939567

This is a intron variant variant in the SMAD7 gene.

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GWAS Catalog Trait Associations (2)

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

colorectal cancer

Tanikawa C et al. “GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.” Carcinogenesis 39(5):652-660 (2018)
Allele G
OR 1.18
p 1.0e-22
N 33,870
Large GWAS
East Asian

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR —
p 2.0e-14
N 630,125
Large GWAS
multi-ancestry

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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