SLC30A10, variants, traits, and what the research shows

SLC30A10 - what this gene does

Variants in this gene cluster around liver and rare disease trait associations in the data on file. Without detailed research summaries for individual variants, the trait themes visible across the dataset - primarily liver, rare disease, and to a lesser extent kidney - define what can honestly be said about this gene at this time.

Key takeaways

• The strongest-scored variants in this gene (magnitude 5.50) are linked to liver conditions and rare disease phenotypes.
• Liver is the dominant trait theme, appearing in the majority of catalogued variants at the highest magnitude levels.
• A rare disease association appears independently across multiple high-magnitude variants, adding weight to the signal.
• A kidney association is also present, at a lower magnitude.
• No detailed peer-reviewed research summaries are yet available for individual variants in this gene.

Notable variants

Four of the top-scored entries (magnitude 5.50) are linked to liver: rs281860284, rs281860285, rs281860288, and rs61832076. Two further magnitude-5.50 variants - rs144010718 and rs79106013 - are catalogued under rare disease rather than liver, representing an independent signal at the same locus. Stepping down in magnitude, rs2527884093 (magnitude 5.00) carries a liver annotation, while rs149771295 (magnitude 4.50) is the only variant with a kidney trait annotation on file.

Trait associations

Liver is the dominant trait in this dataset. At the top magnitude level (5.50), liver-linked variants include rs138025172, rs202111121, rs281860284, rs281860285, rs281860287, rs281860288, rs281860292, rs61832076, rs760889956, rs770740586, and rs781687046. Additional liver-linked entries appear at magnitude 5.00 (rs2527884093 and rs281860290) and magnitude 3.00 (rs1009314082). The rare disease trait appears at rs144010718 and rs79106013 (both magnitude 5.50) and rs1001337733 (magnitude 3.00). A kidney signal is present at rs149771295 (magnitude 4.50). The convergence of liver and rare disease associations across multiple independent variant entries at the same locus is a pattern worth noting as more detailed summaries are added.

Evidence quality

No peer-reviewed research summaries are currently attached to individual variants in this gene; entries reflect variant cataloguing with trait labels and internal magnitude scores, not study-level data such as sample sizes, odds ratios, replication cohort information, or classification as GWAS (genome-wide association study - a study that scans many people's genomes for variants statistically associated with a trait) hits versus clinically confirmed pathogenic variants. Of 194 total catalogued variants, 16 carry research annotations, but none have detailed summaries on file at this time. The fact that multiple independent variants at this locus share the same liver or rare disease trait label raises the plausibility of these associations, but without effect sizes and replication data it is not possible to assess how robust any individual signal is. All findings should be considered preliminary.

What this is NOT

These variants represent population-level statistical signals from genomic research, not deterministic predictors of any individual's health outcomes or disease risk. This entry does not prescribe, diagnose, or advise any course of action.