rs2186369

This is a intron variant variant in the SMARCB1 gene.

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GWAS Catalog Trait Associations (7)

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

N-glycan measurement

Sharapov S et al. “A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins.” Nature Communications 16(1):5525 (2025)
Allele G
OR 0.30
p 4.0e-37
N 7,540
Large GWAS
multi-ancestry

IgG monogalactosylation measurement

Shen X et al. “Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.” Nature Communications 8(1):447 (2017)
Allele G
OR —
p 1.0e-12
N 1,960
Large GWAS
European

IgG fucosylation measurement

Shen X et al. “Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.” Nature Communications 8(1):447 (2017)
Allele G
OR —
p 3.0e-11
N 1,960
Large GWAS
European

IgG galactosylation measurement

Shen X et al. “Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.” Nature Communications 8(1):447 (2017)
Allele G
OR —
p 3.0e-10
N 1,960
Large GWAS
European

IgG digalactosylation measurement

Shen X et al. “Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.” Nature Communications 8(1):447 (2017)
Allele G
OR —
p 4.0e-10
N 1,960
Large GWAS
European

serum IgG glycosylation measurement

Lauc G et al. “Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.” Plos Genetics 9(1):e1003225 (2013)
Allele G
OR 0.23
p 2.0e-8
N 2,247
Large GWAS
European
Landini A et al. “Genetic regulation of post-translational modification of two distinct proteins.” Nature Communications 13(1):1586 (2022)
Allele G
OR 0.27
p 5.0e-11
N 2,020
Large GWAS
European
Shen X et al. “Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.” Nature Communications 8(1):447 (2017)
Allele G
OR —
p 3.0e-11
N 1,960
Large GWAS
European
Wahl A et al. “Genome-Wide Association Study on Immunoglobulin G Glycosylation Patterns.” Frontiers in Immunology 9:277 (2018)
Allele G
OR 0.33
p 3.0e-10
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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