ERC1, variants, traits, and what the research shows

ERC1 - what this gene does

ERC1 shows up across four trait themes in the catalogued variant data: rare disease, cancer, kidney conditions, and immune-related phenotypes. The variant signals span a range of magnitudes, with the strongest association tied to rare disease and, at nearly equal strength, connections to cancer, kidney, and immune traits.

Key takeaways

• The strongest variant on file links this gene to a rare disease trait.
• Three variants at near-equal strength connect to cancer, kidney, and immune phenotypes.
• Rare disease signals appear at two separate magnitude levels in the dataset.
• 84 total variants are catalogued in this gene, spanning multiple biological systems.
• All associations are statistical signals from population studies, not individual health predictors.

Notable variants

The highest-magnitude signal is rs1592108170, a rare disease association scored at magnitude 5.0. Just below that, three variants share a magnitude of 4.5: rs113265486 is linked to a cancer trait, rs117078345 to a kidney trait, and rs188673260 to an immune phenotype. A second rare disease signal appears at rs140918161 within the magnitude 3.0 cluster, which also includes rs139035931, rs141356033, and rs147847605, among others.

Trait associations

Rare disease associations appear at two distinct magnitude levels: rs1592108170 at magnitude 5.0 and rs140918161 at magnitude 3.0. Two separate variants pointing to the same trait theme provides more confidence that a genuine relationship may exist, though the specific condition is not identified in the current dataset. The cancer association through rs113265486, the kidney association through rs117078345, and the immune association through rs188673260 each appear as a single variant at magnitude 4.5. Roughly 15 additional magnitude 3.0 variants in this gene currently lack trait labels in the available data.

Evidence quality

The magnitude 5.0 rare disease signal at rs1592108170 is the highest-ranked finding in this dataset, but published editorial content for this variant is not yet on file, so effect size, sample size, and replication status are not available. The three magnitude 4.5 variants - rs113265486, rs117078345, and rs188673260 - have published pages, though their summaries do not currently include detailed trait metadata that can be cited in this entry. No odds ratios (the ratio comparing how often a trait occurs in people with vs. without a given variant), beta coefficients (the size of a variant's statistical effect on a measured outcome), or cohort sizes are claimed here because they are absent from the source data. Most signals originate from GWAS research - genome-wide association studies that scan many genetic positions across large groups of people to find statistical links to a trait - and represent population-level findings rather than replicated clinical evidence.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors of any individual's health or disease risk. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation to take any action.