KCNN3, variants, traits, and what the research shows

KCNN3 - what this gene does

Variants in KCNN3 have been catalogued across research spanning rare disease, cardiovascular, and cancer trait categories. The available data does not supply enough characterised functional detail to describe the gene's mechanism beyond those trait themes.

Key takeaways

• Several variants in this gene carry the highest catalogued magnitudes and are all linked to rare disease traits.
• A cardiovascular-linked variant has been identified at magnitude 4.50.
• A cancer-linked variant is also on file at magnitude 4.50.
• Two variants have dedicated published pages.
• The full on-file set covers 112 variants, reflecting sustained research attention.

Notable variants

The five highest-magnitude signals on file, each rated at 5.50 and linked to rare disease, are rs1571259807, rs1571260285, rs1571353663, rs2101782564, and rs76925601. A sixth rare disease variant, rs2524731280, is rated at magnitude 5.00. Among the magnitude-4.50 variants, rs1131820 and rs11804928 each have published summary pages, rs13376333 is tagged to cardiovascular traits, and rs565112359 is tagged to cancer.

Trait associations

Rare disease is the most represented trait category in this gene, appearing across the five top-magnitude variants (rs1571259807, rs1571260285, rs1571353663, rs2101782564, rs76925601), in rs2524731280 and rs1131820, and in a cluster of magnitude-3.00 variants including rs1005929642, rs1213266406, rs1245831928, rs1277660019, rs1408630129, and rs143130189. Cardiovascular traits appear in rs13376333 and cancer traits appear in rs565112359. The recurrence of rare disease associations across variants at multiple magnitude levels suggests a consistent signal in the research, though replication details are not available in the current data.

Evidence quality

The variant catalogue for this gene spans 112 entries, indicating sustained research interest. The rare disease association is the best-supported theme, appearing across variants at multiple magnitude levels. Both the cardiovascular signal (rs13376333) and the cancer signal (rs565112359) each rest on a single on-file variant, so those connections should be considered preliminary until independently replicated. Specific study sizes, cohort details, effect sizes such as odds ratios or beta coefficients, and replication status are not available in the current data, which limits the ability to judge the strength of individual associations.

What this is NOT

The variants described here are population-level statistical signals, not deterministic predictors for any individual person. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.