rs115208233

This is a downstream gene variant variant in the MCOLN1 gene.

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GWAS Catalog Trait Associations (1)

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

opioid overdose severity measurement

Cheng Z et al. “Genome-wide scan identifies opioid overdose risk locus close to MCOLN1.” Addiction Biology 25(2):e12811 (2020)

Allele G

OR 0.46

p 3.0e-9

N 3,477

Large GWAS

multi-ancestry

About MCOLN1

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

View all MCOLN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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