SH3PXD2A, variants, traits, and what the research shows

SH3PXD2A - what this gene does

Variants in SH3PXD2A have been catalogued in population-level genetic research across four distinct biological domains: respiratory health, cardiovascular function, liver biology, and cancer. No mechanistic detail can be inferred from the available variant data alone, but the trait themes collectively suggest a gene with broad physiological relevance.

Key takeaways

• Variants in this gene show up in genetic research spanning respiratory, cardiovascular, liver, and cancer traits.
• Three independent top-ranked variants each point to respiratory traits, which is consistent with a more replicated signal in that domain.
• The highest-magnitude variants on file all reach a score of 4.50, reflecting strong statistical association signals in large-scale genome-wide studies.
• 172 variants are catalogued here, with 39 carrying prior research summaries - a substantial portion of the landscape remains less thoroughly characterised.
• These are population-level statistical associations, not individual health predictions.

Notable variants

The highest-magnitude entries (magnitude 4.50) span all four trait themes. Respiratory associations are represented by three independent variants: rs10748849, rs12248541, and rs7921536. Cardiovascular traits are linked to rs1389189 and rs7101148. Liver-related traits appear through rs34594271, and cancer risk through rs6584565. Four additional top-magnitude variants - rs1008463, rs10786767, rs10883928, and rs4630220 - also reach magnitude 4.50 and have published pages, though specific trait labels for these are not available in the current dataset.

Trait associations

The trait signal in this gene clusters into four areas. Respiratory traits are the most consistently represented, with rs10748849, rs12248541, and rs7921536 all reaching the highest magnitude tier independently; convergence across multiple variants in the same domain is generally considered a stronger signal than a single hit. Cardiovascular associations appear through rs1389189 and rs7101148. A liver-related trait association is recorded for rs34594271, and a cancer-related association for rs6584565.

Evidence quality

All 11 top-tier variants carry a magnitude score of 4.50, consistent with moderate-to-strong statistical association signals from GWAS (genome-wide association studies - large studies that scan hundreds of thousands of genetic positions across tens of thousands of people to find variants statistically linked to a trait). Of 172 catalogued variants, 39 have prior research summaries, meaning most of the variant landscape in this gene remains less thoroughly documented. The current dataset does not include per-variant sample sizes, odds ratios, or beta coefficients, which limits precise quantification of effect sizes. The independent recurrence of respiratory associations across three top-magnitude variants - rs10748849, rs12248541, and rs7921536 - is the strongest convergent signal visible in this dataset; all other trait associations rest on fewer independent variant hits and should be treated as preliminary pending detailed replication data.

What this is NOT

These variants are population-level statistical signals drawn from large genetic studies - they describe group-level tendencies and are not deterministic predictors of any individual's health. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation for any course of action.