THSD4, variants, traits, and what the research shows

THSD4 - what this gene does

Across its catalogued variants, this gene is most frequently associated with cardiovascular traits and rare disease categories, with additional signals spanning neurological, respiratory, cancer, and pharmacogenomics research.

Key takeaways

• Variants here are most strongly linked to cardiovascular traits and rare diseases
• Twelve of the top-magnitude variants (magnitude 5.50) split evenly across cardiovascular and rare disease categories
• Additional signals connect this gene to neurological, respiratory, cancer, and pharmacogenomics research
• 191 total variants are on file; none yet carry detailed research summaries in this entry
• These are population-level statistical signals, not deterministic predictors for any individual

Notable variants

The highest-magnitude tier (magnitude 5.50) holds twelve variants: seven with cardiovascular associations - rs138125166, rs146042172, rs2140250054, rs2140274801, rs2140288609, rs2141129448, and rs767807136 - and five with rare disease associations - rs200317870, rs201430314, rs2140250314, rs374099396, and rs930116181. One step below, rs2052914931 carries a cardiovascular signal at magnitude 5.00. Among mid-tier variants (magnitude 4.50), rs142200609 and rs201879533 flag neurological associations, rs190321105 a cancer association, rs2415116 a respiratory association, and rs34631960 a pharmacogenomics association.

Trait associations

Cardiovascular is the most represented trait theme, appearing across seven magnitude-5.50 variants (rs138125166, rs146042172, rs2140250054, rs2140274801, rs2140288609, rs2141129448, rs767807136), one magnitude-5.00 variant (rs2052914931), and rs12904863 at magnitude 4.50 - making it the dominant theme by count. Rare disease associations span five magnitude-5.50 variants alongside rs2165489 at magnitude 4.50. Neurological signals appear at rs142200609 and rs201879533; a respiratory signal at rs2415116; a cancer signal at rs190321105; and a pharmacogenomics signal at rs34631960.

Evidence quality

No individual research summaries are currently surfaced for this gene's variants; trait labels and magnitude scores represent the current curation tier, not full study-level metadata. Magnitude scores combine effect size and evidence strength, but without sample sizes, replication cohorts, or study design details, the relative weight of any single signal cannot be determined here. The breadth of trait themes - cardiovascular, rare disease, neurological, respiratory, cancer, pharmacogenomics - suggests possible pleiotropic (affecting multiple biological systems) associations, but this pattern also warrants caution: cross-domain signals can reflect genuine biology or artefacts of overlapping phenotype definitions in large GWAS (genome-wide association study - a study that scans many people's genomes for variants statistically linked to a trait) datasets. All findings should be treated as entry points to the primary literature, not confirmed conclusions.

What this is NOT

These variants are population-level statistical signals and are not deterministic predictors of any health outcome for any individual. This entry does not constitute medical advice, a diagnosis, or a recommendation to take any action.