BNC2, variants, traits, and what the research shows

BNC2 - what this gene does

BNC2 is a gene whose catalogued variants cluster around rare diseases, liver-related traits, and respiratory conditions, pointing to a multi-system research footprint across 415 variants on file.

Key takeaways

• Nine of the highest-ranked BNC2 variants are linked to rare disease in current research
• Liver-related traits appear among the gene's mid-tier signals
• Respiratory traits are also represented, indicating a broad research footprint
• Most associations derive from population-level studies and should not be read as individual predictions
• The evidence base spans hundreds of variants, with the strongest signals concentrated in the rare-disease category

Notable variants

The highest-magnitude signals (5.50) form a cluster of nine rare-disease-associated variants: rs116000575, rs1350162888, rs138000896, rs144217211, rs146566771, rs1563774686, rs752429719, rs774757602, and rs79395563. Stepping down to magnitude 4.50, rs10962594 is associated with liver-related traits, while rs7035303 and rs76780579 are each linked to respiratory traits. rs12377846 also registers at magnitude 4.50. Lower-magnitude rare-disease signals continue further down the list, including rs1009218937 and rs1214572092 at magnitude 3.00.

Trait associations

Rare disease is the dominant theme: nine top-ranked variants - rs116000575, rs1350162888, rs138000896, rs144217211, rs146566771, rs1563774686, rs752429719, rs774757602, and rs79395563 - share this classification, and the signal extends to lower-magnitude entries such as rs1009218937 and rs1214572092, suggesting the rare-disease association is not driven by a single outlier. Liver-related associations appear through rs10962594, and respiratory traits are linked to two independent variants, rs7035303 and rs76780579 - convergence across distinct rsids modestly strengthens that signal.

Evidence quality

The nine magnitude-5.50 rare-disease variants represent the strongest signals in this dataset; their shared trait classification across multiple distinct rsids is consistent with a real locus effect, though specific study cohort sizes and formal replication status are not available in the data presented here. Liver and respiratory associations at magnitude 4.50 are notable but carry less individual weight. Of 415 total variants on file, 85 carry prior published summaries, indicating a moderate-to-substantial evidence base. Most findings here are expected to derive from GWAS - genome-wide association studies that scan large populations for variants statistically linked to a trait - which produce population-level effect estimates that should not be applied to any single individual.

What this is NOT

These variants are population-level statistical associations from research studies, not deterministic predictions of disease for any individual. Nothing on this page constitutes medical advice, a clinical diagnosis, or a health recommendation of any kind.