rs1043483

This variant is located in the VARS2 gene.

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GWAS Catalog Trait Associations (1)

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

psoriasis

Zhang M et al. “Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.” Journal of Translational Medicine 23(1):133 (2025)

Allele T

OR 0.18

p 5.0e-45

N 472,819

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

not specified; not provided; Combined oxidative phosphorylation defect type 20

View on ClinVar →

About VARS2

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

View all VARS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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