rs6586063
This is a intron variant variant in the SHLD2 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.
nephrolithiasis
Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)
Allele A
OR 1.08
p 1.0e-11
N 975,370
Large GWAS
multi-ancestry
gout
Nakayama A et al. “Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.” Annals of the Rheumatic Diseases 79(5):657-665 (2020)
Allele G
OR 1.49
p 4.0e-11
N 5,459
Large GWAS
East Asian
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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