ETS1, variants, traits, and what the research shows

ETS1 - what this gene does

ETS1 carries a diverse catalogue of variants linked to trait themes spanning rare disease, immune function, kidney health, pharmacogenomics (how the body processes medicines), coagulation (blood clotting), liver, and nutrition. The breadth of these associations across seven distinct trait domains and 74 on-file variants marks it as a broadly studied locus in published genomic research.

Key takeaways

• The two highest-magnitude variants in ETS1 are both linked to rare disease categories - the strongest statistical signals on file.
• At least two variants are associated with immune-related traits, appearing across more than one evidence tier.
• A pharmacogenomics variant and a kidney-linked variant both reach the mid-high magnitude tier.
• Coagulation, liver, and nutrition associations appear at lower magnitudes, further broadening this gene's trait footprint.
• All findings are population-level statistical associations, not personal health predictions.

Notable variants

The strongest signals come from rs1565372210 and rs193272250, both annotated to rare disease traits at the two highest magnitudes on file (5.50 and 5.00, respectively). Immune-linked signals appear via rs10790956 (magnitude 4.50) and rs1128334 (magnitude 2.80), indicating the immune domain is represented at more than one evidence tier. rs116502295 carries a pharmacogenomics annotation at magnitude 4.50, while rs12790965 is linked to kidney traits at the same tier. rs11221332 is annotated to coagulation at magnitude 2.80.

Trait associations

The most represented trait theme in this gene's catalogue is rare disease, with three variants - rs1565372210, rs193272250, and rs142279599 - carrying this annotation; replication across multiple variants in the same domain strengthens the signal. Immune function is the second most replicated theme, represented by rs10790956 and rs1128334. Single-variant associations exist for pharmacogenomics (rs116502295), kidney (rs12790965), coagulation (rs11221332), liver (rs10790961), and nutrition (rs10893876).

Evidence quality

Several variants carry published editorial pages - including rs10790956, rs11604768, rs116502295, rs11221332, rs1128334, rs10790961, rs10790962, and rs10893876 - indicating they have been reviewed against published literature. The highest-magnitude entries, rs1565372210 and rs193272250, are annotated as rare disease associations, which typically arise from case-level or clinical sequencing data rather than large-scale GWAS (genome-wide association studies that scan many people's genomes for variants statistically associated with a trait). A number of the magnitude-3.00 variants in this catalogue lack trait annotations entirely; those signals should be treated as preliminary until further detail is available.

What this is NOT

The variants catalogued here are population-level statistical signals, not deterministic predictors for any individual - carrying a listed variant does not mean a person will develop any associated condition. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation of any kind.