rs72743461

This variant is located in the SMAD3 gene.

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GWAS Catalog Trait Associations (13)

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

asthma

Ferreira MAR et al. “Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.” American Journal of Human Genetics 104(4):665-684 (2019)
Allele A
OR 1.12
p 3.0e-46
N 341,215
Large GWAS
European
Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)
Allele A
OR 1.11
p 1.0e-45
N 771,388
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 5.0e-33
N 625,448
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.11
p 7.0e-44
N 394,626
Large GWAS
European
Zhu Z et al. “Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.” The European Respiratory Journal 54(6) (2019)
Allele A
OR 1.11
p 4.0e-45
N 394,283
Large GWAS
multi-ancestry
Jia G et al. “Discerning asthma endotypes through comorbidity mapping.” Nature Communications 13(1):6712 (2022)
Allele A
OR 1.12
p 4.0e-9
N 305,098
Large GWAS
multi-ancestry
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele A
OR —
p 7.0e-45
N 281,699
Major Consortium StudyLarge GWAS
European
Shrine N et al. “Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.” The Lancet. Respiratory Medicine 7(1):20-34 (2019)
Allele A
OR 1.14
p 5.0e-14
N 30,810
Large GWAS
European

eosinophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 4.0e-39
N 394,642
Large GWAS
European

asthma, Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele A
OR 1.08
p 5.0e-37
N 346,545
Major Consortium StudyLarge GWAS
European

Inhalant adrenergic use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 2.0e-26
N 355,171
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.11
p 2.0e-25
N 176,445
Major Consortium StudyLarge GWAS
European

childhood onset asthma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 8.0e-25
N 601,193
Large GWAS
multi-ancestry

eosinophil count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 4.0e-23
N 442,919
Large GWAS
multi-ancestry
Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)
Allele A
OR 0.03
p 2.0e-14
N 365,954
Large GWAS
European

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.06
p 6.0e-17
N 547,261
Large GWAS
Nelson CP et al. “Association analyses based on false discovery rate implicate new loci for coronary artery disease.” Nature Genetics 49(9):1385-1391 (2017)
Allele A
OR 1.07
p 5.0e-12
N 63,731
Large GWAS
European, NR

Glucocorticoid use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.10
p 5.0e-14
N 205,700
Major Consortium StudyLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.09
p 2.0e-13
N 384,426
Large GWAS
multi-ancestry

allergic rhinitis

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 C
OR 0.04
p 9.0e-13
N 403,687
Major Consortium StudyLarge 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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