rs7212938

This is a protein-altering variant in the GSDMA gene.

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GWAS Catalog Trait Associations (2)

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

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 1.16

p 4.0e-10

N 20,776

Large GWAS

European

refractive error

Guggenheim JA et al. “Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.” Human Molecular Genetics 31(11):1909-1919 (2022)

Allele G

OR 0.04

p 4.0e-10

N 51,624

Large GWAS

European

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Research that mentions this SNP (1)

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Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR

AssociationN=1,300Jinho Yu et al.(2011)· Pediatric Pulmonology

This case-control study of 1,300 Korean children examined associations between GSDMA rs7212938 (Leu128Val) and GSDMB rs7216389 polymorphisms with childhood asthma susceptibility and intermediate phenotypes (elevated IgE and bronchial hyperresponsiveness). The risk allele combinations showed significant associations with asthma (aOR 1.36-1.68), atopic asthma, and elevated IgE/BHR levels, suggesting additive effects from GSDMA and GSDMB variants in asthma pathogenesis.

Traits studied:AsthmaAtopyBronchial hyperresponsiveness (BHR)Elevated IgE

PubMed DOI Metascience Observatory

About GSDMA

Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in perinuclear region of cytoplasm. Is active in membrane. [provided by Alliance of Genome Resources, Jul 2025]