rs2023716

This is a intron variant variant in the CRKL gene.

GWAS Catalog Trait Associations (1)

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

heparin cofactor 2 measurement

Allele C
OR 0.08
p 2.0e-23
N 47,745
Large GWAS
European

About CRKL

This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]

View all CRKL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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