BICC1, variants, traits, and what the research shows

BICC1 - what this gene does

The variants catalogued for this gene cluster into two main trait themes: kidney-related conditions and rare diseases. A smaller number of variants carry signals pointing to cancer and neurological traits, and without detailed functional summaries on file, the trait landscape described here comes entirely from statistical associations in the variant data.

Key takeaways

• Most of the highest-magnitude variants in this gene point to kidney conditions or rare diseases
• Nine separate variants reach the top magnitude score of 5.50, split between kidney and rare disease traits
• Cancer and neurological signals also appear, at a lower magnitude than the kidney and rare disease clusters
• All associations are statistical patterns from population studies, not personal health predictions
• Published summaries for individual variants are not yet available, so this entry reflects trait categories only

Notable variants

The variants at magnitude 5.50 represent the strongest signals on record for this gene. Among the rare disease associations at this tier are rs138398480, rs144147641, and rs747794940. Matching them in magnitude, kidney-linked signals include rs145960427, rs147466451, and rs200593598. Further down the scale, rs138916713 (magnitude 4.50) carries a cancer association and rs147178120 (magnitude 4.50) a neurological one, broadening the trait picture beyond the dominant kidney and rare disease clusters.

Trait associations

Kidney-related traits are the most represented category, appearing at every magnitude level in this dataset, from rs1187480950 at 3.00 up to five variants at 5.50: rs145960427, rs147466451, rs200593598, rs2132481650, and rs2493810553. Additional kidney signals appear at magnitude 5.00 (rs2492076262, rs2492140343, rs778832785) and 4.50 (rs1649068). The presence of multiple independent kidney-linked variants across the full magnitude range is a notable pattern, though the specific nature of this gene's involvement in kidney biology is not characterized in the data available here. Rare disease associations cluster at the top of the magnitude scale, with four variants scoring 5.50: rs138398480, rs144147641, rs184466963, and rs747794940. Cancer and neurological associations each appear at one variant (rs138916713 and rs147178120 respectively), both at magnitude 4.50, making them the least replicated signals in this dataset.

Evidence quality

Of the 200 variants on file, 16 carry flags for prior research engagement, but no published summaries have been completed for this gene, meaning specific effect sizes, odds ratios, sample sizes, and replication status are not available here. The magnitude scores (ranging from 3.00 to 5.50) blend effect size with evidence strength but do not substitute for underlying study metadata. Without that metadata, it is not possible to distinguish well-replicated multi-cohort GWAS (genome-wide association study, a scan of many people's genomes for variants statistically tied to a trait) findings from single-cohort preliminary results. The breadth of kidney signals across multiple independent variants is the most notable pattern in the data, but the full evidence picture should be considered incomplete until individual variant summaries are published.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This entry does not prescribe, diagnose, or advise any course of action.