rs2168518

This is a coding sequence variant variant in the CSK gene.

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GWAS Catalog Trait Associations (1)

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

Calcium channel blocker use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele G
OR 0.06
p 3.0e-12
N 204,378
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Association of the genetic polymorphisms in immunoinflammatory microRNAs with risk of ischemic stroke and subtypes in an Iranian population
ReviewHassan Darabi et al.(2019)· Journal of Cellular Physiology

This is a review of microRNA (miRNA) regulome dysregulation in atherosclerosis phenotypes. The paper summarizes studies on miRNA expression changes, DNA methylation in miRNA genes, and associations between single nucleotide polymorphisms (SNPs) in miRNA genes with atherosclerotic complications including coronary artery disease (CAD), myocardial infarction (MI), and ischemic stroke (IS). Key SNPs studied include rs2910164 (MIR146A) and rs3746444 (MIR499A/B), though results are often contradictory across different populations, with heterogeneous sample sizes ranging from 100-100K individuals.

Traits studied:Arterial hypertensionAtherosclerosisAtherosclerotic plaque instabilityBlood lipid levelsCarotid atherosclerosisChronic cerebral ischemiaCoronary artery diseaseCoronary artery restenosisDiabetes mellitus type 2Ischemic strokeMyocardial infarction
PubMedDOIMetascience Observatory

About CSK

The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]

View all CSK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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