rs17293443

This is a intron variant variant in the SMAD3 gene.

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GWAS Catalog Trait Associations (1)

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

positive regulation of ovulation

Mbarek H et al. “Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.” Human Reproduction (oxford, England) 39(1):240-257 (2024)
Allele T
OR 0.10
p 1.0e-13
N 716,517
Meta-analysisLarge GWAS
European
Gordon SD et al. “GWAS of Dizygotic Twinning in an Enlarged Australian Sample of Mothers of DZ Twins.” Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies 26(6):327-338 (2023)
Allele T
OR 0.21
p 4.0e-9
N 27,282
Large GWAS
European
Mbarek H et al. “Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.” American Journal of Human Genetics 98(5):898-908 (2016)
Allele T
OR 1.15
p 6.0e-11
N 14,933
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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