Variants linked to Hirschsprung Disease

Continuously updated · newest added Sep 13, 2026

6 positions on this site are linked to Hirschsprung Disease, out of 7,939 published in total. Each was published only after passing the same quality gate; being on this list is an association, not a diagnosis.

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Sensitive

Hirschsprung disease

SEMA3 · rs62472985

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Sensitive

Hirschsprung disease

SEMA3 · rs117617821

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Sensitive

Hirschsprung disease

RET · rs17653445

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Sensitive

Hirschsprung disease

NRG1 · rs7005606

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Sensitive

Hirschsprung disease

SEMA3C/3D · rs80227144

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Sensitive

Hirschsprung disease

RET · rs2742234

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Questions about variants on this site

What is a "variant" page on this site?

One specific position in the genome (an rsID), explained in plain language with what published research has found it linked to, and how strong that link actually is.

Where does new variant data come from?

The public GWAS Catalog, checked every twenty minutes, plus variants added manually after research review. Every one passes the same quality gate before publishing.

Does being listed here mean a variant causes a condition?

No. Listing reflects an association from published research, not a diagnosis or a cause. Most common variants shift probability modestly rather than determining an outcome.

Can I search this list by gene or rsID?

Yes — the search box above matches gene symbols and rsIDs as well as trait names.