rs7038415

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GWAS Catalog Trait Associations (1)

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

Takayasu arteritis

Ortiz-Fernández L et al. “Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study.” American Journal of Human Genetics 108(1):84-99 (2021)
Allele A
OR 1.45
p 5.0e-8
N 6,854
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Fine mapping of the 9q31 Hirschsprung’s disease locus
AssociationN=732Tang CS et al.(2010)· Human Genetics

This fine-mapping study of the 9q31 Hirschsprung's disease (HSCR) locus identified population-specific susceptibility variants. In Dutch HSCR patients without RET coding mutations, SVEP1 SNPs rs10816998 (p=5.33×10⁻⁵, OR=2.38) and rs7038415 (p=7.50×10⁻⁵, OR=2.35) showed strong association, but failed replication. In Chinese HSCR patients, IKBKAP SNPs were associated, particularly in RET mutation carriers (rs10979596/rs10979597: p=5.10×10⁻⁶, OR=3.32), suggesting population-specific genetic architecture and epistatic interaction between RET mutations and 9q31 modifiers.

Traits studied:Hirschsprung's diseaseLong segment HSCRShort segment HSCRTotal colonic aganglionosis
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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