B4GALT1, variants, traits, and what the research shows

B4GALT1 - what this gene does

Based on the catalogued variant data, this gene is associated with trait themes spanning rare diseases, metabolic conditions, and liver-related phenotypes, with the strongest signals concentrated in the rare disease category.

Key takeaways

• Six of the seven highest-confidence variants in this gene are linked to rare disease traits
• One high-confidence variant carries a metabolic trait association
• Liver-related traits appear at the next confidence tier
• The full catalog spans 120 variants across three trait themes
• Detailed variant summaries are still being compiled; treat these as preliminary signals

Notable variants

The six highest-magnitude rare-disease variants - rs111399879, rs149181384, rs1564035076, rs182359666, rs1840249855, and rs940141048 - all reach magnitude 5.50, the highest tier in the current dataset. Alongside them, rs551564683 reaches the same 5.50 tier with a metabolic trait association. At magnitude 4.50, rs62544382 is linked to liver traits, while rs35559504 is catalogued at the same tier without a specified trait association at this time.

Trait associations

The rare disease signal is the most consistent theme across this gene's variant catalog. Six variants at the highest magnitude tier - rs111399879, rs149181384, rs1564035076, rs182359666, rs1840249855, and rs940141048 - point to rare disease categories, and this signal is reinforced by a further eight magnitude-3.00 rare disease variants: rs1065764, rs1364636517, rs138922397, rs1411979572, rs1412835916, rs146996656, rs150774756, and rs1587756000. Metabolic traits are represented by the high-magnitude rs551564683. Liver-related traits are flagged by rs62544382.

Evidence quality

Detailed per-variant research summaries are not yet available for this gene; the catalog lists 120 entries in total, with 25 flagged as having prior research that has not yet been summarized here. Without effect sizes, sample sizes, or replication status for individual variants, the strength of these signals cannot be fully characterized. The concentration of rare disease associations across multiple magnitude tiers - from 5.50 down to 3.00 - suggests a consistent pattern, but each variant should be evaluated against its underlying published study before drawing conclusions. Treat these associations as preliminary pointers to the literature, not established clinical findings.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors of disease or health outcomes for any individual. Nothing here constitutes medical advice, a diagnosis, or a recommendation of any kind.