rs12898997

This is a intron variant variant in the CSK gene.

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GWAS Catalog Trait Associations (3)

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

osteoarthritis

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)

Allele T

OR 1.02

p 6.0e-14

N 1,962,069

Large GWAS

multi-ancestry

hematocrit

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.02

p 2.0e-12

N 584,623

Major Consortium StudyLarge GWAS

multi-ancestry

systolic blood pressure

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)

Allele C

OR 0.34

p 1.0e-9

N 275,793

Major Consortium StudyLarge GWAS

European

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]