CFH, variants, traits, and what the research shows

CFH - what this gene does

Variants catalogued in this gene cluster around three broad clinical themes visible in the research data: rare disease, vision, and kidney. Without functional summaries for the variants currently on file, this entry describes where the gene appears in research rather than characterizing a specific molecular mechanism.

Key takeaways

• Variants in this gene are associated with rare disease conditions, vision-related traits, and kidney-related traits
• All 20 listed variants carry a high internal magnitude score of 5.50
• Nine variants are tagged to rare disease, five to vision, and five to kidney
• 626 total variants are catalogued in this gene, with 50 having prior research summaries - indicating an actively studied locus
• Population-level associations do not predict outcomes for any individual

Notable variants

All 20 variants currently on file share a magnitude score of 5.50 - among the higher values used by this system. Rare-disease-linked variants include rs1131690796, rs121913051, rs121913057, rs121913060, and rs121913063. Vision-associated variants include rs114743644, rs121913061, rs1239695899, rs139360826, and rs141852866. Kidney-associated variants - rs1362306576, rs139254423, rs140107330, rs141336681, and rs142937931 - form a third distinct cluster within the same gene.

Trait associations

The 20 listed variants span three trait domains. Nine are tagged to rare disease: rs1131690796, rs121913051, rs121913057, rs121913060, rs121913063, rs1300996807, rs1311814991, rs1328357943, and rs1351891195. Five are tagged to vision traits: rs114743644, rs121913061, rs1239695899, rs139360826, and rs141852866. Five are tagged to kidney traits: rs1362306576, rs139254423, rs140107330, rs141336681, and rs142937931. The gene's overall catalogue of 626 variants - with 50 carrying prior research summaries - suggests a locus that has received sustained research attention.

Evidence quality

No functional summaries are currently available for the 20 variants listed here. All carry a magnitude score of 5.50, but without effect sizes (such as odds ratios or beta coefficients - numbers that express how strongly a variant shifts a trait's probability), sample sizes, or replication data on file, the individual strength of each signal cannot be fully assessed. The trait labels - rare disease, vision, kidney - are broad category tags; specific condition names are not available in the current input. The overall count of 626 catalogued variants, with 50 carrying summaries, indicates that richer evidence exists for this gene and will be reflected as summaries are added.

What this is NOT

These variants are population-level statistical signals - associations observed across large groups of people - and are not deterministic predictors for any individual; carrying a variant linked to a trait in a population study does not mean any specific person will develop that condition. This page does not prescribe, diagnose, or advise any course of action.