MAML2, variants, traits, and what the research shows

MAML2 - what this gene does

MAML2 is a human gene that genome-wide association studies (GWAS - studies that scan many people's genomes for variants statistically associated with a trait) have linked to traits spanning at least five broad domains: respiratory health, cardiovascular health, kidney function, cancer risk, and rare disease categories. The published summaries for individual variants are still being populated, so what follows is grounded in the variant-level data currently on file.

Key takeaways

• Variants near this gene have been flagged in studies covering five distinct trait areas: respiratory, cardiovascular, cancer, kidney, and rare disease.
• Two separate variants are both linked to cancer-related traits, which may suggest a more consistent signal in that domain than in others.
• The highest-magnitude variants in the dataset all score 4.50 on our internal evidence-weighting scale, placing them in the top tier.
• 125 variants in this gene are on file, spanning a wide range of magnitudes and trait categories.
• These are population-level statistical associations, not individual-level predictions.

Notable variants

The ten highest-magnitude variants all share a score of 4.50. Among those with trait labels, rs10501835 is linked to respiratory traits and rs10765792 to cardiovascular traits. Cancer associations appear in two independent variants: rs479825 and rs7115578. Kidney function is flagged by rs61901888 and rare disease by rs144383384. Four additional top-magnitude variants - rs115019323, rs12421433, rs4598633, and rs7101873 - are also on file at this tier, though their trait labels are not yet catalogued in our dataset.

Trait associations

This gene shows up across a notably wide range of trait categories in the research on file. Respiratory associations are captured by rs10501835, and cardiovascular associations by rs10765792. Cancer is the only domain where multiple top-magnitude variants converge: both rs479825 and rs7115578 carry cancer-linked signals at the highest magnitude tier. While two variants sharing a trait domain does not constitute strong replication by itself, it is a pattern worth noting. Kidney traits appear through rs61901888, and rare disease through rs144383384. The breadth of these associations may reflect genuine biological pleiotropy (where a single gene influences multiple biological systems) or may reflect separate functional regions within the gene acting independently - distinguishing these possibilities requires deeper per-variant review.

Evidence quality

All ten of the top-tier variants carry an identical magnitude score of 4.50, suggesting they each met the combined threshold for effect size and evidence strength used in our ranking system. However, the four variants with published pages - rs12421433, rs115019323, rs10501835, and rs10765792 - currently have empty summaries, meaning specific effect sizes, odds ratios, sample sizes, and replication status are not available in our dataset at this time. The next tier of listed variants carries a magnitude score of 3.00, and the full set of 125 variants on file includes many without published summaries. Without per-variant effect size data, the strength of individual signals cannot be independently verified from this record alone.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.