ATP2B1-AS1, variants, traits, and what the research shows

ATP2B1-AS1 - what this gene does

ATP2B1-AS1 (the "-AS1" suffix indicates antisense RNA 1, a class of regulatory RNA encoded on the opposite strand from a neighbouring gene) appears across multiple lines of genetic research, with variants catalogued across cardiovascular, neurological, mental health, nutrition, musculoskeletal, metabolic, vision, and cancer trait categories. Because the detailed research summaries for individual variants are not yet available in current records, the characterisation below is grounded in variant-level metadata only.

Key takeaways

• Five high-magnitude variants at this locus are associated with cardiovascular traits, making cardiovascular research the most represented category on file
• Neurological and mental health associations also appear among the highest-magnitude signals
• The locus spans a notably broad set of trait categories including nutrition, musculoskeletal, vision, metabolic, and cancer
• 163 variants are catalogued here, 47 of which carry prior research coverage
• All associations are population-level statistical signals - they are not deterministic predictors for any individual

Notable variants

The highest-magnitude signals on file (magnitude 4.50) include a cardiovascular cluster: rs111371067, rs113516553, rs113983785, rs138517179, and rs796212487. At the same magnitude, rs117483990 is linked to neurological traits, rs12321461 to mental health, and rs150425221 to nutrition. rs7970120 also reaches magnitude 4.50, though its trait category is not recorded in current sources. Among mid-magnitude signals, rs11105468 points to neurological associations and rs10745512 to cardiovascular traits.

Trait associations

Cardiovascular traits are the most represented, with five magnitude-4.50 variants - rs111371067, rs113516553, rs113983785, rs138517179, and rs796212487 - plus lower-magnitude signals such as rs10745512. Neurological associations appear at multiple magnitude levels, represented by rs117483990 at high magnitude and rs11105468 and rs10777205 at mid-magnitude. Mental health is represented by rs12321461. Musculoskeletal conditions are linked to rs10777212, rs10777221, and rs10858944. Vision associations appear via rs10858945 and rs10858946. Metabolic traits are represented by rs10858923, and rs10858922 carries an association whose specific trait is not detailed in current records. A cancer-linked signal is on file at rs753918074.

Evidence quality

Of the 163 variants on file, 47 carry prior research coverage; detailed published summaries - including sample sizes, effect sizes, and replication status - are not yet available in current records for the variants described here, including several of the highest-magnitude signals. GWAS (genome-wide association study - a method that scans large numbers of people's genomes for variants statistically associated with a trait) findings at this locus span cardiovascular, neurological, mental health, and nutrition domains at the highest magnitude tier, suggesting this region of the genome intersects several independent research programmes. The co-presence of musculoskeletal, vision, metabolic, and cancer signals at lower magnitudes may reflect linkage disequilibrium - a situation where nearby genetic variants are inherited together so frequently that an association with one can appear to extend to neighbours - rather than independent functional signals. Until detailed per-variant summaries are available, the breadth of trait associations should be interpreted with caution.

What this is NOT

The variants described here are population-level statistical associations identified in large genetic studies - they describe tendencies across groups and are not deterministic predictors of any trait or condition for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.