PRDM16, variants, traits, and what the research shows

PRDM16 - what this gene does

PRDM16 is a human gene with 713 catalogued genetic variants, the strongest of which cluster into two broad trait themes: cardiovascular conditions and rare diseases. No per-variant functional summaries are yet available in this database, so the entry below describes only the trait associations visible in the variant data rather than any molecular mechanism.

Key takeaways

• PRDM16 has variants linked to both cardiovascular conditions and rare disease categories.
• All 20 of the highest-ranked variants on file share a magnitude score of 5.50 - placing them among the top-tier signals across the gene.
• 18 of those 20 high-magnitude variants are catalogued under cardiovascular traits; 2 fall under rare disease.
• With 713 total catalogued variants, this gene shows broad genetic diversity across its chromosomal locus.
• These are population-level statistical associations, not personal health predictions.

Notable variants

Representative cardiovascular-associated variants include rs1085307663, rs114204766, rs1210169174, rs1373869540, rs145632008, and rs184929979, each catalogued at magnitude 5.50. The two rare disease variants on file, rs1057520188 and rs1643715509, carry the same magnitude score. Specific trait names and effect sizes for all of these variants are not yet annotated in this database; individual SNP pages will carry that detail when available.

Trait associations

The cardiovascular theme dominates the top 20 variants. Beyond those highlighted above, additional cardiovascular-catalogued variants at magnitude 5.50 include rs1270496059, rs1294136105, rs1358863856, rs1366555985, rs149333409, rs1553174650, rs1569798933, rs1643176372, rs188908415, rs191798831, rs199895459, and rs199972068. The concentration of 18 high-magnitude cardiovascular variants within a single gene is a notable pattern; however, the specific cardiovascular phenotypes involved require per-variant annotation to clarify.

Evidence quality

Per-variant summaries - including original study sources, sample sizes, odds ratios (measures of how much a variant changes the statistical odds of a trait), and replication status - are not yet available in this database for this gene. The 5.50 magnitude scores reflect an internal prioritization combining effect size and evidence strength, placing all 20 listed variants among the stronger signals across the gene's 713 total catalogued variants. Until individual SNP pages are annotated, the cardiovascular and rare disease labels should be understood as broad thematic categories rather than confirmed links to specific clinical conditions; all associations listed here should be considered preliminary signals awaiting fuller characterization.

What this is NOT

These variants represent population-level statistical signals from genomic studies (GWAS - genome-wide association studies that scan many people's DNA for variants statistically linked to a trait) and are not deterministic predictors of any individual's health outcomes. Nothing on this page constitutes medical advice, a clinical diagnosis, or a recommendation to take any action.