rs143236340

This is a regulatory region variant variant in the CILP gene.

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GWAS Catalog Trait Associations (3)

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

level of myocilin in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.31
p 8.0e-18
N 47,745
Large GWAS
European

cartilage intermediate layer protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.35
p 1.0e-17
N 47,745
Large GWAS
European

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele A
OR 0.21
p 3.0e-8
N 2,584,013
Large GWAS
multi-ancestry

About CILP

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

View all CILP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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