rs3742015

This variant is located in the MVK gene.

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GWAS Catalog Trait Associations (2)

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

Red cell distribution width

Pilling LC et al. “Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.” Plos One 12(9):e0185083 (2017)

Allele C

OR 0.02

p 3.0e-8

N 116,666

Large GWAS

European

Stuttering

Polikowsky HG et al. “Large-scale genome-wide analyses of stuttering.” Nature Genetics 57(8):1835-1847 (2025)

Allele T

OR 0.04

p 5.0e-8

N 374,279

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

not specified

View on ClinVar →

About MVK

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]