rs4425613

This variant is located in the L3MBTL3 gene.

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GWAS Catalog Trait Associations (4)

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

level of sphingomyelin phosphodiesterase 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 0.05
p 7.0e-23
N 47,745
Large GWAS
European

cathepsin Z 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 0.04
p 3.0e-15
N 47,745
Large GWAS
European

omega-3 polyunsaturated fatty acid measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 4.0e-12
N 450,015
Large GWAS
multi-ancestry

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.01
p 1.0e-9
N 1,320,016
Large GWAS
European

About L3MBTL3

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]

View all L3MBTL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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