rs17294280

This is a regulatory region variant variant in the SMAD3 gene.

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GWAS Catalog Trait Associations (4)

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

asthma

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 0.09
p 3.0e-24
N 435,101
Major Consortium StudyLarge GWAS
European

allergic rhinitis

Waage J et al. “Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.” Nature Genetics 50(8):1072-1080 (2018)
Allele G
OR 1.07
p 6.0e-12
N 212,120
Large GWAS
multi-ancestry

asthma, endometriosis

Adewuyi EO et al. “Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.” Human Reproduction (oxford, England) 37(2):366-383 (2022)
Allele A
OR —
β 0.082
p 7.0e-11
N 519,828
Large GWAS
East Asian, European

asthma, seasonal allergic rhinitis

Ferreira MA et al. “Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.” The Journal of Allergy and Clinical Immunology 133(6):1564-71 (2014)
Allele G
OR 1.18
p 4.0e-9
N 20,776
Large GWAS
European

About SMAD3

The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]

View all SMAD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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