Trait
SNPs associated with Hirschsprung disease
13 genetic variants across 3 genes have been associated with Hirschsprung disease in published research. Key genes include LINC03017, NRG1, RET.
Associated variants13 total
| rsid | Gene | Effect | Evidence |
|---|---|---|---|
| rs9282834 | RET | GWAS association (p=4.0e-14) | Meta-analysis |
| rs7005606 | NRG1 | GWAS association (p=1.0e-11) | Meta-analysis |
| rs80227144 | — | GWAS association (p=5.0e-10) | Meta-analysis |
| rs4672229 | — | GWAS association (p=3.0e-08) | Meta-analysis |
| rs2505998 | RET | GWAS association (p=4.0e-43) | Meta-analysis |
| rs2505994 | — | GWAS association (p=2.0e-101) | Large GWAS |
| rs117617821 | — | GWAS association (p=7.0e-16) | Large GWAS |
| rs4519046 | — | GWAS association (p=3.0e-15) | Large GWAS |
| rs62472985 | LINC03017 | GWAS association (p=3.0e-11) | Large GWAS |
| rs12428625 | — | GWAS association (p=4.0e-11) | Large GWAS |
| rs17653445 | — | GWAS association (p=5.0e-10) | Large GWAS |
| rs2742234 | RET | GWAS association (p=4.0e-18) | Small GWAS |
| rs16879552 | NRG1 | GWAS association (p=2.0e-08) | Small GWAS |
Associations aggregated from the GWAS Catalog and curated literature. Informational only — not medical advice.