rs11202365

This is a protein-altering variant in the SHLD2 gene.

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GWAS Catalog Trait Associations (1)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)

Allele T

OR —

β 0.014

p 3.0e-10

N 684,122

Large GWAS

European

About SHLD2

Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in actin cytoskeleton; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Jul 2025]

View all SHLD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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