SEMA6D, variants, traits, and what the research shows

SEMA6D - what this gene does

SEMA6D (Semaphorin 6D) is a human gene whose variants have been flagged in genome-wide association studies (GWAS - studies that scan the genomes of large populations for variants statistically linked to a trait) across three broad domains: mental health traits, neurological conditions, and cancer.

Key takeaways

• Variants in this gene cluster across mental health, neurological, and cancer trait categories in GWAS research.
• Mental health associations dominate the top-ranked signals, accounting for the majority of highest-magnitude variants on file.
• Neurological associations appear across several independent variant sites within the gene.
• A cancer-linked signal is also present, extending the gene's trait footprint beyond brain-related conditions.
• All associations are population-level statistical signals, not individual-level predictions.

Notable variants

Mental health associations lead the top-ranked signals: rs117319730, rs12442330, rs1347473, and rs175979 are all tagged to mental health traits, and they share the same evidence tier as neurological signals rs10519132 and rs2573570. A cancer-linked signal is anchored by rs117833852. All of these variants carry a magnitude score of 4.50, placing them at a consistent evidence level within this gene.

Trait associations

Twelve of the twenty highest-magnitude variants are tagged to mental health traits: rs117319730, rs12442330, rs12898855, rs12909734, rs1347473, rs1563245, rs16959426, rs16959739, rs175979, rs281244, rs281279, and rs281280. The recurrence of mental health associations across this many independent variant sites within a single gene is noteworthy, though independent replication across multiple cohorts is needed before any individual signal can be considered well-established. Four variants - rs10519132, rs12903078, rs2573570, and rs281302 - are linked to neurological conditions. One variant, rs117833852, is tagged to cancer. Three additional high-magnitude variants - rs117480223, rs185507702, and rs1912629 - are on file but carry no trait-category assignment in the current dataset.

Evidence quality

All twenty of the highest-magnitude variants share a score of 4.50, indicating a consistent evidence tier across the top signals rather than a single outlier driving the picture. The gene has 251 catalogued variants in total, with 24 carrying prior research summaries - a moderate depth of published investigation. Specific effect sizes (such as odds ratios or beta coefficients) and cohort sample sizes are not available in the current dataset for individual variants, which limits direct comparison of signal strength. The trait-category labels here reflect broad GWAS assignment rather than confirmed clinical diagnoses or validated causal mechanisms; independent replication in separate cohorts is required before any of these associations moves beyond provisional status.

What this is NOT

These are population-level statistical associations from GWAS research - they describe patterns observed across large groups, not outcomes determined or excluded for any individual. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation to take any action.