STX18-AS1, variants, traits, and what the research shows

STX18-AS1 - what this gene does

STX18-AS1 is a human gene locus with 86 catalogued variants spanning multiple trait domains. Based on the available variant data, this gene shows associations with conditions across musculoskeletal, cancer, kidney, immune, metabolic, and mental health themes.

Key takeaways

• Variants at this locus span at least six trait domains: musculoskeletal conditions, cancer, kidney traits, immune function, metabolic traits, and mental health.
• Cancer associations appear across multiple distinct variants at this locus, which can indicate a more robust research signal.
• The highest-ranked variants by evidence magnitude are linked to cancer, musculoskeletal, kidney, immune, and metabolic traits.
• These are population-level statistical associations from genetic studies and are not individual diagnostic markers.
• 86 variants are catalogued at this locus, with 18 carrying prior research context.

Notable variants

The highest-magnitude variants (magnitude 4.50) include rs150870868 and rs34775372, both linked to cancer traits, alongside rs12508927 associated with musculoskeletal outcomes, rs16836018 tied to a kidney trait, rs6842024 linked to immune function, and rs767825872 associated with a metabolic trait. Variant rs4689933 also reaches the highest magnitude tier but lacks a trait label in the current data. At a lower evidence magnitude (2.80), rs1000579 is associated with mental health, rs1039906 with cancer, and rs870142 with a rare disease.

Trait associations

Cancer is the most prominently recurring trait theme at this locus, with rs150870868, rs34775372, and rs1039906 all carrying cancer-linked annotations. When multiple variants at the same locus point to the same trait domain, that repeated signal can support greater confidence in the association, though trait-level detail beyond the cancer label is not available in the current data. Musculoskeletal traits appear via rs12508927, kidney traits via rs16836018, immune function via rs6842024, and metabolic traits via rs767825872. A mental health association is present through rs1000579, and a rare disease signal is catalogued at rs870142.

Evidence quality

The 86 variants on file at this locus include 18 with prior research summaries, and the highest-magnitude signals (4.50) span cancer, musculoskeletal, kidney, immune, and metabolic trait domains. However, individual effect sizes such as odds ratios or beta coefficients, along with sample sizes and study populations, are not available in the current summary data. It is not possible from the available information to determine whether these findings derive from single-cohort or multi-cohort GWAS (genome-wide association studies, which scan large populations for genetic variants statistically linked to traits), or whether they have been independently replicated. Trait labels are categorical and do not specify the precise condition or study context. These associations should be treated as pointers to areas of ongoing research rather than confirmed clinical findings.

What this is NOT

These variants are population-level statistical signals from large-scale genetic studies and are not deterministic predictors of any health outcome for any individual. Nothing presented here constitutes medical advice, a diagnosis, or a recommendation to take any action.