rs2233218

This variant is located in the MOCS2 gene.

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GWAS Catalog Trait Associations (1)

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

level of molybdopterin synthase catalytic subunit 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 1.20
p 1.0e-265
N 47,745
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
7 submitters2 publications

not specified; not provided; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

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About MOCS2

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]

View all MOCS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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