rs74686196

This variant is located in the CASTOR2 gene.

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GWAS Catalog Trait Associations (2)

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

alanine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele C

OR 0.02

p 2.0e-14

N 450,015

Large GWAS

multi-ancestry

level of zona pellucida sperm-binding protein 3 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 C

OR 0.03

p 8.0e-12

N 47,745

Large GWAS

European

About CASTOR2

Enables identical protein binding activity. Involved in negative regulation of TORC1 signaling. Located in GATOR2 complex and cytosol. [provided by Alliance of Genome Resources, Jul 2025]

View all CASTOR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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