ETV6, variants, traits, and what the research shows

ETV6 is a human gene with 235 catalogued variants linked to cancer and rare disease trait categories in current genomic databases.

High-magnitude variants on file
235
With published research summary
15
Trait themes
2

ETV6 - what this gene does

ETV6 has 235 variants catalogued in this database, distributed across two broad trait themes: cancer and rare disease. Because no detailed research summaries are yet available for individual variants in this gene, the description here is limited to what the variant record itself shows - a set of high-magnitude signals spanning both oncology and rare disease categories.

Key takeaways

  • ETV6 carries variants associated with both cancer and rare disease trait categories in current genomic databases.
  • All top-ranked variants on file share a high magnitude score of 5.50, indicating substantial flagging in the underlying data.
  • The majority of the highest-ranked listed variants fall under the rare disease category, with a smaller subset linked to cancer.
  • 235 total variants are catalogued for this gene, making it one of the more variant-rich entries in this database.
  • These are population-level statistical associations, not certainties for any individual.

Notable variants

All 20 top-ranked variants carry a magnitude score of 5.50. On the cancer side, rs1007158603 and rs121434637 are both flagged under the cancer trait theme at this magnitude. On the rare disease side, a cluster including rs1210398083, rs1356564786, rs1403421167, rs140357643, and rs144055004 all carry the same magnitude 5.50 score. Additional rare disease variants at this tier include rs144209028, rs146280653, and rs149416707. The uniformity of magnitude scores across all listed entries is notable but cannot be further interpreted without individual variant summaries.

Trait associations

The two trait themes represented across ETV6 variants are cancer and rare disease. Of the 20 highest-magnitude variants shown, two - rs1007158603 and rs121434637 - are tagged under the cancer theme, while the remaining 18 including rs150858928, rs200351280, rs201196326, rs202004830, rs2136595276, rs2136602093, rs2136602130, and rs2497924887 fall under the rare disease theme. The repeated appearance of the rare disease category across so many independent variants in this gene is a recurring signal worth noting, though the specific conditions involved cannot be named without detailed per-variant summaries.

Evidence quality

No individual SNP research summaries are currently available for ETV6 variants in this database. The 235 variants on file all carry a uniform magnitude score of 5.50, which reflects substantial flagging, but without accompanying odds ratios, beta coefficients, sample sizes, or cohort details it is not possible to characterize replication status or the strength of the underlying evidence for any individual entry. All trait assignments here are broad category-level labels only. Individual variant pages will carry fuller evidence details as summaries become available; readers should treat the current record as a preliminary index rather than a curated evidence summary.

What this is NOT

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

Traits this gene affects

  • cancer
  • rare_disease

Top variants in ETV6

Highest-impact rsids on file, sorted by magnitude. Linked entries have a full research summary; unlinked entries are in the catalog but not yet written up.

rsidMagnitudePrimary trait
rs10071586035.5cancer
rs12103980835.5rare_disease
rs1214346375.5cancer
rs13565647865.5rare_disease
rs14034211675.5rare_disease
rs1403576435.5rare_disease
rs14372744945.5rare_disease
rs1440550045.5rare_disease
rs1442090285.5rare_disease
rs1462806535.5rare_disease
rs1494167075.5rare_disease
rs1508589285.5rare_disease
rs18638625915.5rare_disease
rs2003512805.5rare_disease
rs2011963265.5rare_disease
rs2020048305.5rare_disease
rs21365952765.5rare_disease
rs21366020935.5rare_disease
rs21366021305.5rare_disease
rs24979248875.5rare_disease