YAP1, variants, traits, and what the research shows

YAP1 - what this gene does

Variants catalogued for YAP1 span three trait themes - rare disease, cancer, and kidney-related conditions - though the current summaries do not supply mechanistic detail about how the gene operates.

Key takeaways

• Four of the highest-magnitude variants in this gene are each linked to rare disease conditions
• A separate variant connects this gene to cancer traits
• Kidney-related traits appear through a high-magnitude variant at this locus
• 91 variants are catalogued for this gene, with 24 having published research summaries
• These are population-level statistical signals, not personal predictions for any individual

Notable variants

Four variants - rs2135086778, rs587777249, rs587777250, and rs777581023 - carry the highest recorded magnitude scores (5.50) in this gene's dataset and are each associated with rare disease traits; their shared magnitude tier and trait label suggest a consistent rare disease signal at this locus. rs1591100766 (magnitude 5.00) is linked to cancer, while rs1950250678 (magnitude 5.00) adds another rare disease association. rs117496742 (magnitude 4.50) has a dedicated published research page, and rs17097471 (magnitude 4.50) is the primary kidney-associated variant on file.

Trait associations

Rare disease is the most represented theme, appearing at the highest-magnitude tier (rs2135086778, rs587777249, rs587777250, rs777581023, rs1950250678) and again among magnitude-3.00 entries (rs1391431049, rs1942859608); its presence across multiple variant positions and magnitude tiers is the strongest pattern visible in this dataset. Cancer traits surface through rs1591100766, and kidney-related traits through rs17097471 - each currently represented by a single variant in the catalogued data.

Evidence quality

The database holds 91 variants for this gene, 24 of which carry prior research summaries. Magnitude scores blend effect size and evidence strength; the four magnitude-5.50 rare disease variants represent the strongest signals on file. Detailed sample sizes, cohort counts, and replication status are not available from the current summaries, making it impossible to distinguish GWAS (genome-wide association study - a scan of many genomes for statistically linked variants) signals from clinically annotated findings. The cancer and kidney associations each derive from a single variant in the current data and should be treated as preliminary until further replication evidence is available.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. Nothing here constitutes medical advice, a diagnosis, or a recommendation to take any action.