PLXDC2, variants, traits, and what the research shows

PLXDC2 - what this gene does

PLXDC2 (plexin domain-containing protein 2) is a human gene whose catalogued variants span five broad trait themes: cardiovascular health, kidney function, respiratory conditions, metabolism, and rare disease.

Key takeaways

• Six high-confidence variants in this gene each map to a distinct organ-system trait category: cardiovascular, kidney, respiratory, metabolic, and rare disease
• The gene has 99 variants on file, with 19 carrying prior research annotations
• No single trait dominates - associations are spread across multiple organ systems
• Detailed effect sizes and replication data are not available for most variants in the current dataset
• These are population-level statistical signals, not individual health predictors

Notable variants

The six top-tier variants - each carrying a magnitude score of 4.50, reflecting a combined measure of effect size and evidence weight relative to other variants in the dataset - map to different organ systems. rs11011650 is associated with cardiovascular traits and has a published annotation page, as does rs11011653, which is linked to kidney traits. rs17758689 is associated with respiratory traits, rs192827957 with metabolic traits, and rs4634985 with rare disease. A sixth magnitude-4.50 variant, rs7923280, currently lacks a labeled trait category in this dataset. Fourteen additional variants - including rs137878669, rs143829207, rs148113935, rs148566256, and rs36003977 - sit at magnitude 3.00 without trait annotations, limiting what can be said about them individually.

Trait associations

Across the 19 research-annotated variants, five trait themes are represented: cardiovascular conditions (anchored by rs11011650), kidney-related phenotypes (rs11011653), respiratory traits (rs17758689), metabolic phenotypes (rs192827957), and rare disease (rs4634985). The breadth of associations across organ systems is notable. In GWAS - genome-wide association studies, large scans that test hundreds of thousands of genetic positions across many people's genomes for statistical links to traits - a gene appearing in multiple unrelated trait contexts can reflect pleiotropic effects (one gene influencing several biological pathways), or may indicate that this gene sits in a genomic region where linkage disequilibrium (the tendency of nearby variants to be inherited together) causes it to act as a proxy for signals in adjacent genes. The current dataset does not provide enough detail to distinguish between these explanations.

Evidence quality

The six magnitude-4.50 variants represent the strongest signals in this dataset; rs11011650 and rs11011653 have dedicated published pages, which indicates a higher level of documented annotation than the remaining top-tier variants. Specific cohort sizes, odds ratios, and replication status are not present in the current input and cannot be inferred from the magnitude scores alone. The 14 magnitude-3.00 variants carry no trait labels, which further limits their interpretability. Overall, the evidence base here is best treated as hypothesis-generating - signals that warrant further investigation - rather than settled clinical findings.

What this is NOT

These variants are population-level statistical associations from genetic studies and are not deterministic predictors of any health outcome for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.