rs56252442
This is a regulatory region variant variant in the MAST3 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
urate measurement
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.02
p 6.0e-16
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.02
p 1.0e-15
N 630,117
Large GWAS
European
testosterone measurement
Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele T
OR 0.02
p 2.0e-8
N 243,951
Large GWAS
European, South Asian
About MAST3
Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Jul 2025]
View all MAST3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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