CAMTA1, variants, traits, and what the research shows

CAMTA1 - what this gene does

CAMTA1 carries variants that have been flagged in genomic research across two broad trait areas: rare diseases and neurological conditions. No detailed mechanism or function summaries are available for individual variants in the current dataset, so the account below is drawn from trait categories and magnitude scores alone.

Key takeaways

• Variants in this gene cluster into two research areas: rare diseases and neurological conditions.
• All of the top-ranked variants on file share the same high magnitude score, making each an individually notable signal.
• 468 variants are catalogued for this gene in total, with 33 reaching the threshold for prior research annotation.
• These are population-level statistical associations - not predictions for any single person.
• Detailed effect sizes and study-level metadata for individual variants are not yet available in this dataset.

Notable variants

The twenty highest-ranked variants on file all carry a magnitude of 5.50 - the top tier in this dataset. Among those linked to rare-disease traits: rs1064795180, rs1174536251, rs1395631005, rs140089643, and rs142986673. Variants associated with neurological traits at the same magnitude include rs1085307743, rs138288107, rs143630062, rs147636995, and rs1576691273. Because all share the same magnitude tier, no individual variant can be ranked above the others on available data alone.

Trait associations

The variant record spans two trait categories. Rare-disease associations appear across rs1064795180, rs1174536251, rs1395631005, rs140089643, rs142986673, rs143700608, rs143855619, rs146626323, rs1553231167, rs1553238271, rs1553239242, rs1553240332, rs1553288266, rs1577313897, and rs1577362553 - representing the majority of the top-ranked set. Neurological trait associations appear at the same magnitude level across rs1085307743, rs138288107, rs143630062, rs147636995, and rs1576691273. The presence of both trait themes at the top-magnitude tier indicates this gene is relevant to research in both domains.

Evidence quality

All 20 top-ranked variants carry a uniform magnitude of 5.50, which reflects individual-variant scoring but does not allow finer ranking within this set. No per-variant statistics - such as odds ratios (a measure of how much a variant changes the statistical odds of a trait), beta coefficients, or cohort sample sizes - are available in the current dataset. The 33 variants with prior research annotations out of 468 total indicate meaningful representation in population genomics databases (large-scale studies that scan many people's genomes for variants statistically associated with traits), but the specific studies behind each signal are not yet surfaced here. Without replication data or study-level metadata, these associations should be treated as directional indicators rather than established clinical findings.

What this is NOT

These variants are population-level statistical signals identified through large-scale genomic studies - they are not deterministic predictors of disease or outcome for any individual. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation to take any action.