rs73422620
This is a intron variant variant in the SH3GL2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
pyruvate measurement
Moore A et al. “Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.” The Journal of Biological Chemistry 298(12):102706 (2022)
Allele G
OR 3.23
p 4.0e-8
N 243
Small GWAS
About SH3GL2
Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of signal transduction. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all SH3GL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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