rs1859164

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GWAS Catalog Trait Associations (1)

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

endometriosis

Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)
Allele T
OR 0.02
p 2.0e-9
N 217,530
Large GWAS
European
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Research that mentions this SNP (1)

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Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot
AssociationN=1,927Audrey R. Ester et al.(2009)· American Journal of Medical Genetics Part A

Family-based association study identifying altered transmission of SNPs in HOX gene clusters (HOXA, HOXD) and IGFBP3 as potential risk factors for clubfoot (talipes equinovarus), a common congenital limb defect. Key findings include significant associations with rs3801776 in HOXA (p=0.004 discovery, p=0.028 validation), rs13223993 in IGFBP3 (p=0.003), and strong gene-gene interactions between HOX and apoptotic pathway genes (CASP3, CASP10, Bid, Apaf1), suggesting HOX and apoptotic perturbations affect limb and muscle development.

Traits studied:Clubfoot (talipes equinovarus)Congenital vertical talusIdiopathic clubfoot
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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