ARID1B, variants, traits, and what the research shows

ARID1B - what this gene does

The variants catalogued in ARID1B (AT-rich interaction domain 1B) are linked to rare disease traits. Based on the current dataset, the clearest picture available is that multiple high-magnitude variants in this gene appear in rare disease research contexts.

Key takeaways

• ARID1B carries over 1,100 catalogued variants, with 20 carrying research-linked annotations tied to rare disease.
• All 20 annotated variants share a magnitude score of 5.50 - an unusually uniform signal across the annotated set.
• The sole trait theme across all annotated variants is rare disease, a broad category covering conditions that affect very small numbers of people.
• These are population-level statistical signals, not individual predictions - carrying a variant does not mean a person will develop any condition.
• Detailed study metadata is not yet available for these variants; they should be treated as preliminary signals pending fuller annotation.

Notable variants

All 20 variants with research annotations in this gene carry an identical magnitude score of 5.50 and are annotated under the rare disease trait theme. These include rs1022306360, rs1040995163, rs1044746171, rs1048427417, rs1050569986, rs1057517704, rs1057518213, and rs1057518256, alongside rs1057518387, rs1057518691, rs1057518951, rs1057522183, rs1057522610, rs1057524160, rs1060499668, rs1064793899, rs1085307518, rs1085307818, rs1131691339, and rs1131691706. The uniformity of magnitude and trait annotation across all 20 suggests a coherent signal cluster rather than a set of isolated findings.

Trait associations

All 20 annotated variants point to the rare disease trait category. Rare disease - also called orphan disease, defined in most regulatory frameworks as a condition affecting fewer than 1 in 2,000 people - is the sole trait theme present in the current dataset. Because no individual disease labels are available beyond this umbrella category, it is not possible from the current data to characterize which specific conditions are involved. The breadth of the rare disease category means these variants could span a wide range of clinical presentations; replication across multiple distinct studies would be needed to narrow this further.

Evidence quality

The current dataset includes 1,165 total variants in this gene, of which 20 carry research-linked annotations, all at magnitude 5.50. However, no detailed SNP summaries - such as odds ratios, sample sizes, or study cohort descriptions - are available for any of these variants at this time. This makes it impossible to assess replication status, effect size confidence, or whether findings originate from GWAS (genome-wide association study - a study that scans many people's genomes for variants statistically associated with a trait) or from other study designs such as clinical case series. The uniform magnitude score across all 20 annotated variants is notable but cannot be further interpreted without underlying study metadata; these should be treated as preliminary signals pending fuller annotation.

What this is NOT

These variants represent population-level statistical signals, not deterministic predictors of any individual's health outcomes - a person carrying one of these variants may never develop any associated condition. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.