KCNQ1, variants, traits, and what the research shows

KCNQ1 - what this gene does

The variants catalogued for KCNQ1 span two broad trait themes: cardiovascular conditions (diseases and traits affecting the heart and circulatory system) and rare diseases (conditions affecting a small proportion of the population, often driven by changes in a single gene). No per-variant functional summaries are yet available, so the trait landscape described here reflects the variant catalog directly.

Key takeaways

• KCNQ1 has variants linked to both cardiovascular and rare disease trait categories
• 20 high-magnitude variants are currently catalogued with research-level data
• All 20 catalogued variants share the highest magnitude score on file (5.50)
• The gene has over 1,180 total variants on file - a broad research landscape
• Detailed per-variant evidence is being added as SNP summaries become available

Notable variants

All 20 variants with research data on file carry a magnitude score of 5.50 - the top tier in this dataset. Among cardiovascular-linked entries, rs1001293702, rs11601907, rs120074179, rs120074184, and rs120074190 each carry this top-tier score. On the rare disease side, rs1057519584, rs1060500621, rs1085307965, and rs1131691513 carry identical scores, indicating substantial research interest. The uniform magnitude across both trait categories is notable, though specific effect sizes and sample sizes are not yet available for any of these entries.

Trait associations

Variants in this gene cluster into two trait categories. Cardiovascular associations are represented across 13 of the 20 catalogued variants, including rs1001293702, rs1025802726, rs1060500626, rs1064796353, rs11601907, and the series from rs120074179 through rs120074193. The remaining 7 variants - rs1057519584, rs1060500621, rs1060500623, rs1060500629, rs1085307965, rs1131691513, and rs1135401944 - fall under rare disease associations. The presence of high-magnitude variants in both categories suggests this gene appears across a meaningful range of conditions, though specific diagnoses require per-variant detail not yet available.

Evidence quality

All 20 variants on file carry a magnitude score of 5.50 - the highest tier in this dataset - making these the best-evidenced entries in the catalog. However, no GWAS (genome-wide association study - a study scanning many people's genomes for variants statistically linked to a trait) sample sizes, odds ratios, beta coefficients, or replication data are currently available for any individual variant. With 1,182 total variants on file, these 20 represent a curated top tier; the broader catalog awaits deeper annotation. Confidence in specific trait links should be treated as preliminary until per-variant summaries are completed.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This page does not prescribe, diagnose, or advise any course of action.