ESR1, variants, traits, and what the research shows

ESR1 - what this gene does

Research variants in ESR1 span five trait themes visible in the catalogued data: hormonal function, musculoskeletal conditions, rare disease, cancer, and cardiovascular health. Of 359 catalogued variants, 33 carry published research summaries; the strongest signals on file reach a magnitude of 5.50 across the hormonal, musculoskeletal, and rare-disease categories.

Key takeaways

• Variants in this gene are associated with five trait themes: hormonal function, musculoskeletal health, rare disease, cancer, and cardiovascular conditions
• The highest-magnitude signals (5.50) span hormonal, musculoskeletal, and rare-disease categories across eight distinct variants
• Cancer and cardiovascular associations are represented by well-studied variants with dedicated research pages
• 359 variants are catalogued for this gene, indicating it has been extensively studied
• All associations are population-level statistical signals, not deterministic predictions for any individual

Notable variants

Eight variants reach the highest catalogued magnitude of 5.50: three linked to hormonal traits - rs104893956, rs121913043, and rs397509428 - two to musculoskeletal conditions - rs144206837 and rs567194577 - and three to rare-disease categories - rs139548761, rs149308960, and rs771334693. At magnitude 5.00, rs1131692059 carries a hormonal signal and rs746177326 a musculoskeletal one. At magnitude 4.50, rs117855749 is linked to cancer and rs12195741 to cardiovascular health - both have published research pages.

Trait associations

The hormonal trait theme appears across multiple variants spanning the 5.50 and 5.00 magnitude tiers - rs104893956, rs121913043, rs397509428, and rs1131692059 - a pattern of recurrence that strengthens the signal in that category. Musculoskeletal associations are similarly replicated across rs144206837, rs567194577, rs746177326, and rs1293940. Rare-disease signals cluster in three high-magnitude variants - rs139548761, rs149308960, and rs771334693. Cancer (rs117855749) and cardiovascular (rs12195741, rs12663193) associations complete the trait picture. Three magnitude-4.50 variants - rs2347637, rs2982713, and rs9479117 - carry no trait label in the current dataset and cannot be further characterized here.

Evidence quality

The strongest variants carry a magnitude of 5.50, consistent with high-impact signals; however, trait metadata for many of them is limited to broad category labels (hormonal, musculoskeletal, rare disease) rather than specific condition names, which constrains what can be stated with precision. Published research pages exist for rs117855749 (cancer) and rs12195741 (cardiovascular), indicating more detailed evidence is available for those two. The multi-variant replication across hormonal and musculoskeletal categories is notable, but GWAS (genome-wide association study - a design that scans large numbers of genomes for variants statistically linked to a trait) findings vary widely in sample size and replication depth; neither sample sizes nor multi-cohort replication status are available in the current dataset, so no single finding can be characterized beyond its magnitude score. Three magnitude-4.50 variants (rs2347637, rs2982713, rs9479117) lack trait labels entirely, representing a gap in the current evidence picture.

What this is NOT

These variants represent population-level statistical associations - patterns observed across large groups of people - and are not deterministic predictors of any outcome for any individual. This content does not constitute medical advice, a diagnosis, or a treatment recommendation.