TBX15, variants, traits, and what the research shows

TBX15 - what this gene does

TBX15 shows up in population-level genetic research primarily linked to rare disease traits and, secondarily, to respiratory traits. Because no detailed variant summaries are on file, the characterization below is drawn entirely from the trait labels and signal magnitudes recorded across 145 catalogued variants.

Key takeaways

• The strongest signals in this gene (magnitude 5.50) are tied to rare disease categories, appearing across five separate variants.
• A respiratory trait association appears at magnitude 4.50, represented by a single named variant.
• All high-magnitude variants at magnitude 5.00 and above point toward rare disease, making this the dominant research theme.
• Effect sizes and exact condition names are not yet available, so all associations should be treated as preliminary pointers.
• With 145 total variants on file, this gene has a substantial research footprint, but detailed mechanistic evidence is limited at this time.

Notable variants

The five highest-magnitude signals on record, rs144291418, rs1655113495, rs200564235, rs2101422164, and rs2101422204, all share a magnitude of 5.50 and are each tagged to a rare disease trait. A sixth rare disease variant, rs1571155763, registers at magnitude 5.00. On the respiratory side, rs946210 carries a magnitude of 4.50 and is the only trait-named respiratory signal currently on file. Two additional magnitude-4.50 variants, rs78395856 and rs78571577, are recorded without a trait label.

Trait associations

The trait landscape for this gene is anchored by rare disease associations. Six variants at magnitude 5.00 or higher, specifically rs144291418, rs1655113495, rs200564235, rs2101422164, rs2101422204, and rs1571155763, all carry the rare disease label. Among the magnitude-3.00 tier, rare disease labels reappear at rs1046205058, rs1225498534, rs139099587, rs1401118627, and rs142267114, further reinforcing this theme across the gene's variant profile. The respiratory trait association is represented solely by rs946210, though this remains a single data point without additional corroborating signals currently on file.

Evidence quality

The evidence base for this gene is incomplete. No detailed SNP summaries, including effect sizes, odds ratios, sample sizes, or replication cohort information, are currently on file. The magnitude scores and trait labels are the only structured data available, and without underlying study metadata it is not possible to determine whether the associations derive from GWAS (genome-wide association studies, which scan large populations for statistical links between genetic variants and traits) or other study designs, nor whether findings have been replicated across independent cohorts. The recurrence of the rare disease label across multiple high-magnitude variants is suggestive, but the absence of trait specificity means these signals should be read as early-stage pointers rather than confirmed associations.

What this is NOT

The variants listed here are population-level statistical signals, not deterministic predictors of any outcome for any individual person. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.