rs146776010

This variant is located in the CLC gene.

GWAS Catalog Trait Associations (3)

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

level of bone marrow proteoglycan in blood

Allele C
OR 0.37
p 2.0e-29
N 47,745
Large GWAS
European

proteoglycan 3 measurement

Allele C
OR 0.32
p 3.0e-24
N 47,745
Large GWAS
European

basophil percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.09
p 3.0e-11
N 408,112
Large GWAS
European

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

About CLC

Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]

View all CLC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…