rs9624334

This is a intron variant variant in the SMARCB1 gene.

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GWAS Catalog Trait Associations (3)

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

marginal zone B- and B1-cell-specific protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.08
p 6.0e-25
N 47,745
Large GWAS
European

N-glycan measurement

Sharapov SZ et al. “Defining the genetic control of human blood plasma N-glycome using genome-wide association study.” Human Molecular Genetics 28(12):2062-2077 (2019)
Allele G
OR 0.28
p 5.0e-12
N 2,763
Large GWAS
multi-ancestry

serum IgG glycosylation measurement

Wahl A et al. “Genome-Wide Association Study on Immunoglobulin G Glycosylation Patterns.” Frontiers in Immunology 9:277 (2018)
Allele C
OR 0.34
p 8.0e-12
N 1,823
Large GWAS
European

About SMARCB1

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

View all SMARCB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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