GPC5, variants, traits, and what the research shows

GPC5 - what this gene does

Variants catalogued in GPC5 span multiple trait themes - including kidney function, neurological conditions, metabolic traits, respiratory conditions, musculoskeletal traits, cancer, and rare diseases - though the specific biological mechanisms linking this gene to these traits are not detailed in the currently available variant data.

Key takeaways

• Three high-magnitude variants in this gene are linked to cancer-related traits
• Kidney and neurological associations appear among the highest-ranked variants
• The variant landscape spans at least seven distinct trait categories
• Most top-ranked variants carry a magnitude score of 4.50, the highest tier in this dataset
• Rare disease associations appear across both higher- and lower-magnitude variants

Notable variants

Three variants tied to cancer - rs68058549, rs77789312, and rs79906855 - all carry a magnitude of 4.50, making them among the highest-ranked associations in the gene. A kidney-linked variant, rs116846463, and a neurological variant, rs117421253, also reach magnitude 4.50. Other notable high-magnitude variants include rs2183606 (metabolic), rs3012004 (respiratory), and rs570881406 (musculoskeletal). The rare disease category is represented by both rs150456039 at magnitude 4.50 and rs137912074 at magnitude 3.00.

Trait associations

The variants on file span seven trait categories. Cancer appears across three separate high-magnitude variants - rs68058549, rs77789312, and rs79906855 - making it the most represented single theme at the top magnitude tier. Kidney function is flagged by rs116846463, neurological conditions by rs117421253, metabolic traits by rs2183606, respiratory traits by rs3012004, and musculoskeletal traits by rs570881406. Rare disease associations appear at both the 4.50 tier (rs150456039) and the 3.00 tier (rs137912074), suggesting the category spans multiple evidence levels. Several variants at both magnitude tiers - including rs12429761, rs4771854, rs576308820, and rs9561096 - carry no trait label in the current dataset.

Evidence quality

Of the 162 variants on file, 18 carry prior research summaries, and this entry draws on the 20 highest-ranked by magnitude. Thirteen variants reach a magnitude of 4.50 - the highest tier present - while seven fall at 3.00. Trait labels are drawn from GWAS (genome-wide association study - a study design that scans many people's genomes to identify variants statistically associated with a trait) and related population-level research. Detailed summary data, including effect sizes, odds ratios, sample sizes, and independent replication status, are not available in the currently published SNP summaries for this gene, so the strength of individual associations cannot be further characterized here. The three cancer-linked variants represent the most repeated trait theme within the top magnitude tier, which modestly distinguishes that signal relative to single-variant themes, but cross-cohort replication has not been confirmed in the available data.

What this is NOT

These variants are population-level statistical signals from group-level genomic studies, not deterministic predictors for any individual person. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.