rs9945126

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.

hematocrit

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 3.0e-16
N 503,490
Large GWAS
multi-ancestry

serum creatinine amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 1.0e-14
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

erythrocyte count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 1.0e-12
N 503,987
Large GWAS
multi-ancestry

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.00
p 1.0e-8
N 368,929
Large GWAS
European

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele G
OR 0.02
p 4.0e-19
N 406,504
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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