MECOM, variants, traits, and what the research shows

MECOM - what this gene does

Variants catalogued in MECOM are predominantly linked to rare disease traits, with one high-magnitude variant also associated with cancer, based on the associations present in the variant data on file.

Key takeaways

• MECOM has 466 variants on file, with 20 carrying the highest magnitude scores in the current dataset.
• Nearly all top-ranked variants fall into the rare disease trait category.
• One high-magnitude variant is separately linked to a cancer trait.
• No detailed research summaries are yet available for individual variants, so specific disease names and effect sizes cannot be reported.
• These associations are population-level statistical signals, not personal health predictions.

Notable variants

Among the 20 highest-magnitude variants on file, rs1309343892, rs144085622, rs148539966, rs200049869, and rs2148891037 are each linked to the rare disease trait category, all carrying a magnitude score of 5.50 (a numerical measure of evidence strength and effect size in the variant catalog). The variant rs2549200429 is the only entry in the top 20 associated with cancer rather than rare disease, also at magnitude 5.50. Additional rare disease-associated variants at the same magnitude include rs557276848 and rs572906212.

Trait associations

The dominant trait theme across the 20 listed variants is rare disease, accounting for 19 of 20 entries. This category is represented by rs1309343892, rs144085622, rs200965422, rs201320721, rs371128391, rs374412171, rs745797691, and rs750695074, among others. The concentration of rare disease associations across multiple independent variants points to a consistent categorical signal. The single cancer-associated variant, rs2549200429, suggests a secondary signal in oncology, though no research summary is yet available to characterize the specific cancer type or effect size.

Evidence quality

All 20 listed variants carry a uniform magnitude score of 5.50, indicating substantial catalogued evidence, but no individual SNP research summaries are currently available for this gene. Without summary-level data, specific effect sizes such as odds ratios or beta coefficients, sample sizes, cohort details, and replication status cannot be reported here. The trait labels of "rare disease" and "cancer" reflect broad categorical associations rather than named specific conditions. The 466 total variants on file suggest a well-studied genomic region, but current trait descriptions should be treated as preliminary catalog entries pending fuller annotation.

What this is NOT

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