SPPL3, variants, traits, and what the research shows

SPPL3 - what this gene does

Variants in SPPL3 have been studied in connection with liver-related traits, cancer risk, metabolic markers, and respiratory phenotypes (measurable biological characteristics). The strongest signals on record, judged by effect-size magnitude, point most prominently to liver function and cancer.

Key takeaways

• The two highest-magnitude variants in this gene are linked to liver traits and cancer risk, each at the top effect-size tier on file.
• Liver associations appear across at least two separate variants, adding modest weight to that trait signal.
• Metabolic and respiratory associations appear at lower effect-size tiers within this gene.
• Most variants lack published odds ratios or cohort sizes in current records, so these signals should be treated as preliminary.
• 91 variants are catalogued in this gene, with trait data available for only a subset, so the full phenotypic picture is still emerging.

Notable variants

The highest-ranked variants are rs656933, linked to liver traits at magnitude 4.50, and rs745670515, linked to cancer at the same magnitude. Seven additional variants including rs142451007 and rs143911453 carry a magnitude of 3.00 but have no trait label in current records. At magnitude 2.80, rs187150787 is associated with metabolic traits and rs58291418 with liver traits, reinforcing the liver and metabolic themes seen at higher tiers.

Trait associations

Liver-related phenotypes appear across multiple variants: rs656933 at magnitude 4.50 and rs58291418 at magnitude 2.80, suggesting this is not a singleton signal. Cancer risk is recorded for rs745670515 at magnitude 4.50, though no additional cancer-linked variants in this gene appear in current records. Metabolic traits are noted for rs187150787 (magnitude 2.80) and rs11065299 (magnitude 2.20). A respiratory phenotype association is on record for rs11065286 (magnitude 2.20).

Evidence quality

The two leading variants, rs656933 and rs745670515, carry the largest effect-size magnitudes in this dataset (4.50), but specific odds ratios, beta coefficients, and sample sizes are not available in the provided records, limiting full contextualisation. The recurrence of liver associations across two variants (rs656933 and rs58291418) provides modest replication support for that trait theme. Sixteen of the 91 catalogued variants have prior research summaries, indicating partial but incomplete coverage. Many variants carry no trait label at all, which constrains a complete characterisation of this gene's phenotypic scope.

What this is NOT

These variants represent population-level statistical associations from genome-wide studies - GWAS, a method that scans large numbers of people's genomes to find positions statistically linked to a trait - and are not deterministic predictors of any health outcome for any individual. This page does not constitute medical advice, a diagnosis, or a recommendation for any course of action.