rs1122608

This is a intron variant variant in the SMARCA4 gene.

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GWAS Catalog Trait Associations (5)

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

low density lipoprotein cholesterol measurement

Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele T
OR 2.71
p 1.0e-14
N 29,902
Large GWAS
European

COVID-19, coronary artery disease

Guo H et al. “Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis.” Frontiers in Microbiology 13:993933 (2022)
Allele T
OR 1.08
p 2.0e-13
N 191,884
Meta-analysisLarge GWAS
multi-ancestry

total cholesterol measurement

Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele T
OR 2.51
p 3.0e-11
N 29,902
Large GWAS
European

coronary artery disease

Schunkert H et al. “Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.” Nature Genetics 43(4):333-338 (2011)
Allele G
OR 1.14
p 1.0e-9
N 86,995
Large GWAS
European

myocardial infarction

Kathiresan S et al. “Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.” Nature Genetics 41(3):334-41 (2009)
Allele G
OR 1.15
p 2.0e-9
N 6,042
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

Rhabdoid tumor predisposition syndrome 2 (RTPS2)

View on ClinVar →
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Research that mentions this SNP (2)

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The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk
AssociationN=833Huijun Ma et al.(2019)· Molecular Genetics &amp; Genomic Medicine

Case-control study of 350 hypertension patients and 483 controls in Chinese Han population examined 8 SNPs in ZC3HC1 and SMARCA4 genes. rs1464890 and rs4507692 in ZC3HC1 showed protective effects (OR=0.68-0.69, 0.65-0.66 in codominant/dominant models), as did rs11879293 and rs1122608 in SMARCA4 (OR=0.70, 0.61). The 'ATT' ZC3HC1 haplotype was associated with 0.75-fold decreased hypertension risk.

Traits studied:Essential hypertensionHypertension
PubMedDOIMetascience Observatory
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BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3
AssociationN=5,792Xin Xiong et al.(2014)· Human Genetics

This case-control association study of 5,792 Chinese Han subjects (2,283 ischemic stroke cases, 3,509 controls) found that rs1122608 in the BRG1/SMARCA4 gene on chromosome 19p13.2 confers protection against ischemic stroke (combined OR 0.73, P adj = 7.86 × 10-5). The protective allele T is associated with increased expression of SFRS3, a splicing factor that may regulate IL-1β expression and reduce atherosclerosis risk.

Traits studied:Coronary artery diseaseIschemic strokeTotal cholesterol
PubMedDOIMetascience Observatory

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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