rs17228058

This variant is located in the SMAD3 gene.

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GWAS Catalog Trait Associations (5)

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

coronary artery disease

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 0.05
p 5.0e-24
N 417,274
Major Consortium StudyLarge GWAS
European
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 0.07
p 4.0e-17
N 296,525
Large GWAS

heart disease

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 0.06
p 8.0e-15
N 610,583
Major Consortium StudyLarge 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 0.083
p 5.0e-13
N 519,828
Large GWAS
East Asian, European

allergic disease

Hinds DA et al. “A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.” Nature Genetics 45(8):907-11 (2013)
Allele G
OR 0.08
p 1.0e-8
N 53,862
Meta-analysisLarge GWAS
European

eosinophil count

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 0.02
p 2.0e-12
N 447,728
Major Consortium StudyLarge GWAS
multi-ancestry

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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