MTHFR, variants, traits, and what the research shows

MTHFR - what this gene does

Variants catalogued for MTHFR cluster around three trait themes - nutrition, mental health, and methylation (a molecular process in which chemical "methyl" tags are added to DNA or other molecules to regulate gene activity) - based on the 356 variants currently on file for this gene.

Key takeaways

• Variants in this gene are associated with nutrition-related, mental health-related, and methylation-related traits in population-level genetic research.
• Twenty high-magnitude variants are highlighted in the current dataset, all carrying an equal signal weight of 5.50.
• Nutrition is the dominant theme, appearing in the majority of the top-ranked variants.
• Two variants are specifically tagged to methylation, the smallest but most mechanistically distinct sub-theme in this dataset.
• All listed variant associations are population-level statistical signals, not deterministic predictions for any individual.

Notable variants

Among the 20 highest-magnitude variants in this dataset - all scoring 5.50 - the majority carry nutrition-related labels: rs1056919085, rs1057519362, rs1057519363, rs115049252, rs121434294, rs121434296, and rs138189536 are among those flagged under nutrition. Mental health associations appear across rs1057519360, rs139645527, rs142612062, and rs142617551. Two variants - rs145641996 and rs149514973 - are specifically tagged to methylation.

Trait associations

The dominant theme across the catalogued variants is nutrition, with numerous top-magnitude variants - including rs1056919085, rs1057519362, rs1057519363, rs115049252, rs121434294, rs121434296, rs1263501260, rs143428827, rs144594875, rs144921426, rs147750177, rs150847674, and rs1553187352 - carrying that label. Mental health associations are present across rs1057519360, rs139645527, rs142612062, and rs142617551. Methylation is the trait label for rs145641996 and rs149514973, representing the fewest but most mechanistically specific variants in this dataset.

Evidence quality

No study-level metadata - such as sample sizes, odds ratios, or GWAS (genome-wide association study - a method that scans many people's genomes for variants statistically linked to a trait) source details - is currently available in the dataset for any of these specific variants. All 20 listed variants share an identical magnitude score of 5.50, reflecting equal prioritization weight in the current pipeline rather than independently verified effect sizes. Trait labels (nutrition, mental health, methylation) represent thematic categories assigned in the database and should not be read as confirmed clinical associations; per-variant summaries have not yet been generated, and preliminary signals require independent replication before conclusions can be drawn.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors of any individual's nutrition, mental health, or methylation status. This encyclopedia entry does not prescribe, diagnose, or advise any course of action.