MACF1, variants, traits, and what the research shows

MACF1 - what this gene does

MACF1 has 675 catalogued variants on file; the highest-priority entries are linked to two trait themes: rare disease and neurological conditions.

Key takeaways

• Variants in this gene are associated with two trait categories: rare disease and neurological conditions
• Twenty of the highest-magnitude variants all share a magnitude score of 5.50, the top tier in this dataset
• Four top-tier variants fall under neurological traits; sixteen fall under rare disease
• These are population-level statistical signals, not individual health predictions
• Detailed condition-level data for these specific variants is still being added to this database

Notable variants

Four top-ranked variants carry a neurological-category label: rs138390862, rs139258331, rs143548063, and rs143660961, each at magnitude 5.50. On the rare disease side, sixteen variants share the same magnitude, including rs1170362213, rs1346714603, rs138060421, rs141023728, and rs1457147107, among others.

Trait associations

All 20 top-tier variants divide into two trait categories. The neurological group - rs138390862, rs139258331, rs143548063, and rs143660961 - accounts for four of the twenty. The remaining sixteen fall under rare disease, represented by entries such as rs1190655274, rs1259154169, rs138392909, rs141334491, and rs1446925902. Both themes appear consistently across the highest-magnitude tier on file.

Evidence quality

All 20 described variants carry a magnitude score of 5.50, the highest tier observed in this dataset. However, no per-variant trait details, effect sizes, sample sizes, or replication information are currently available for any of these entries; the 675 total variants on file have not yet been individually summarized. The evidence quality for the broader variant set is uncharacterized, and specific conditions, mechanisms, or clinical contexts cannot be described until detailed summaries are populated.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This resource does not prescribe, diagnose, or advise on any medical or health decision.