rs4795399

This is a intron variant variant in the GSDMB gene.

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GWAS Catalog Trait Associations (3)

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

childhood onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele T
OR 1.41
p 1.0e-111
N 327,670
Large GWAS
European

asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele T
OR 2.29
p 7.0e-65
N 37,846
Large GWAS
European
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 T
OR 1.10
p 1.0e-45
N 341,215
Large GWAS
European

asthma, age at onset

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 T
OR 1.26
p 5.0e-64
N 28,835
Large GWAS
European

About GSDMB

This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]

View all GSDMB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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