ERBB4, variants, traits, and what the research shows

ERBB4 -- what this gene does

ERBB4 has 401 catalogued variants, with the strongest signals falling in neurological and rare disease trait categories. Additional variants in this gene are linked to cancer and hormonal trait categories.

Key takeaways

• The highest-magnitude ERBB4 variants are linked to neurological and rare disease traits.
• Several variants are also associated with cancer and hormonal traits.
• All of the top-scoring variants carry a magnitude of 5.50, split across neurological and rare disease categories.
• 401 variants are catalogued for this gene, with 17 carrying detailed research notes.
• These are population-level statistical signals, not individual health predictions.

Notable variants

Among the variants with the highest magnitude scores (5.50), several are linked to neurological traits, including rs144311212, rs190654033, rs397514262, rs397514263, rs552079714, rs754487821, and rs76603692. A comparable set of magnitude-5.50 variants are tied to rare disease traits, including rs201275165, rs2469694284, rs371593463, rs568046921, and rs774192228. At magnitude 4.50, rs115525191 and rs116120415 are linked to cancer traits, rs13393577 is also associated with cancer, and rs113168128 is linked to hormonal traits.

Trait associations

The variants on file for this gene span four broad trait categories. Neurological traits appear across seven magnitude-5.50 variants (rs144311212, rs190654033, rs397514262, rs397514263, rs552079714, rs754487821, rs76603692), with a further magnitude-5.00 neurological entry at rs371332509. Rare disease associations are present in six magnitude-5.50 variants (rs201275165, rs2469694284, rs2470000000, rs371593463, rs568046921, rs774192228) as well as two magnitude-5.00 rare disease variants (rs1553563398, rs1575051224). Replication of a trait signal across multiple independent variants in the same gene strengthens the overall evidence, and both neurological and rare disease themes appear in multiple high-magnitude entries here. Cancer trait associations appear at magnitude 4.50, covering rs115525191, rs116120415, and rs13393577. A hormonal trait association is recorded for rs113168128 at magnitude 4.50.

Evidence quality

The variant catalogue for this gene includes 401 entries, of which 17 have detailed prior research summaries. Three variants (rs115525191, rs116120415, rs113168128) have published editorial pages. The top-magnitude variants (scoring 5.50) span neurological and rare disease categories, but the available data does not include specific study sample sizes, odds ratios, or replication cohort details for most entries. Readers should treat the broader catalogue as a starting point for further investigation rather than a definitive clinical evidence base, as trait category labels alone do not convey the depth or quality of the underlying studies.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.