HLA-C, variants, traits, and what the research shows

HLA-C - what this gene does

HLA-C is a gene with variants catalogued across multiple trait categories - including immune conditions, rare diseases, metabolic traits, coagulation, cancer, and neurological phenotypes - based on the research associations on file.

Key takeaways

• Five variants in this gene carry the highest magnitude score in this dataset, spanning immune and rare disease categories
• Additional associations connect this gene to metabolic traits, coagulation, cancer, and neurological phenotypes
• At least 22 of the 62 catalogued variants have published research summaries
• Multiple variants appear across overlapping trait themes, which may suggest shared biological context
• Population-level study signals do not predict outcomes for any individual

Notable variants

The five highest-magnitude variants (magnitude 4.50) are rs1050414, classified under immune traits; rs1131151 and rs2074494, both classified under rare disease; rs144201729, classified under metabolic traits; and rs9264639, for which no specific trait category is recorded in the current dataset. Among the secondary tier (magnitude 2.20), notable variants include rs1050420 in coagulation, rs1050437 and rs1050444 in cancer, rs1130947 in neurological traits, rs1049650 in immune, and rs1130552 and rs1130580 in metabolic traits.

Trait associations

The 62 variants on file span six trait categories. Immune associations appear at both magnitude tiers - rs1050414 (magnitude 4.50) and rs1049650 (magnitude 2.20) - making immune the only category represented at the highest tier with additional replication at the secondary tier. Rare disease associations are represented by rs1131151 and rs2074494, both at the 4.50 tier. Metabolic trait associations appear across four variants spanning both tiers: rs144201729 (4.50), and rs1049281, rs1130552, and rs1130580 (all 2.20). Coagulation is represented by rs1050420, cancer by rs1050437 and rs1050444, and neurological traits by rs1130947.

Evidence quality

Of the 62 variants on file, 22 have published research summaries and 5 carry the highest magnitude score (4.50) in this dataset; the remainder are catalogued at magnitude 2.20. Specific effect sizes - such as odds ratios or beta coefficients - and study-level metadata including sample sizes and replication cohorts are not available from this data extract; individual variant pages should be consulted for those details. The breadth of trait themes reflects representation across GWAS (genome-wide association studies - population-scale scans that test many genetic variants for statistical association with a trait) and ClinVar databases. The immune and rare disease signals at the highest magnitude tier represent the strongest-evidenced findings in this catalogue; the cancer, coagulation, and neurological associations at the secondary tier should be treated as preliminary until replication status is confirmed on individual variant pages.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This page does not prescribe, diagnose, or advise any course of action.