UBE3C, variants, traits, and what the research shows

UBE3C - what this gene does

UBE3C is a human gene whose catalogued variants cluster around two broad trait themes: rare disease and cancer. The available data does not include detailed functional annotations, so this entry characterizes the gene by the trait signals observed across the variant set.

Key takeaways

• The highest-priority variant in this gene is linked to a rare disease category, carrying the top evidence score in the dataset.
• A second strong signal is associated with cancer traits and has a published reference page.
• Additional variants at a lower-magnitude tier extend the rare disease signal.
• All associations here are population-level statistical signals, not personal certainties for any individual.
• The evidence base is still developing; most variants are at a preliminary tier without detailed replication data on file.

Notable variants

The highest-priority variant on file is rs2535694722 (magnitude 5.00), flagged for a rare disease trait. The next strongest signal is rs10261278 (magnitude 4.50), linked to a cancer-related trait and carrying a published reference entry. At the magnitude 3.00 tier, rs1795852301 is the only additional variant with an explicit rare disease label. Several other magnitude 3.00 variants, including rs1194114501, rs1210140034, rs1231000016, and rs202006020, are catalogued without specific trait annotations in the current dataset.

Trait associations

Two trait domains appear across the variant set. The rare disease theme is supported by at least two scored variants: rs2535694722 at the highest magnitude in the gene dataset and rs1795852301 at the next tier. Recurrence of a trait across independent variants strengthens the overall signal, though the specific rare disease entity is not named in the current data on file. The cancer theme is represented by rs10261278, a magnitude 4.50 signal with a published reference page; the cancer subtype is not specified in the summary on file.

Evidence quality

The strongest variant on file, rs2535694722 at magnitude 5.00, carries the highest evidence-weight score in this gene's dataset. rs10261278 at magnitude 4.50 has a published reference page, indicating reviewed editorial status. The remaining variants are scored at magnitude 3.00, a tier that typically reflects preliminary or single-cohort GWAS (genome-wide association study - a study that scans many people's genomes for variants statistically associated with a trait) findings. Of the 80 variants on file, 18 have prior research summaries, but detailed functional or clinical metadata is limited in the current dataset. Replication across independent cohorts and functional validation studies would strengthen the associations at this tier.

What this is NOT

These variants represent population-level statistical signals from large-scale studies, not deterministic predictors of any health outcome for an individual. This entry does not prescribe, diagnose, or advise any course of action.