rs11669133

This is a regulatory region variant variant in the SMARCA4 gene.

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GWAS Catalog Trait Associations (3)

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

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.05
p 1.0e-16
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.05
p 1.0e-15
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
Lettre G et al. “Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.” Plos Genetics 7(2):e1001300 (2011)
Allele A
OR 0.17
p 1.0e-8
N 7,565
Large GWAS
African American or Afro-Caribbean

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 4.0e-14
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

About SMARCA4

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

View all SMARCA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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