CFI rs141853578: what the research says
A rare missense variant in complement factor I strongly predisposing carriers to advanced age-related macular degeneration.
What each genotype means
Typical AMD risk
You carry two copies of the common C allele at rs141853578 in the CFI gene. This genotype is associated with normal baseline complement factor I expression and does not carry the elevated risk for advanced age-related macular degeneration linked to the rare missense variant. Your overall risk for macular degeneration remains governed by general lifestyle and other common genetic factors.
Carried by over 99.8% of individuals globally across most major continental populations.
Elevated advanced AMD risk
You carry one copy of the rare T risk allele, which encodes the p.Gly119Arg alteration in complement factor I. Published research has shown that this heterozygous genotype is statistically associated with reduced serum factor I levels and a significantly higher odds of developing advanced age-related macular degeneration. However, carrying this variant is not a clinical diagnosis and does not guarantee the disease will develop, as overall outcomes depend on age, environmental factors, and additional genetic influences.
Found in fewer than 1 in 1,000 individuals globally in gnomAD, though frequency is slightly higher in European cohorts enriched for macular degeneration.
Elevated advanced AMD risk
You carry two copies of the rare T risk allele at rs141853578 in the CFI gene. Having two copies of this variant is linked to substantially reduced complement factor I activity and an increased statistical predisposition to advanced age-related macular degeneration. Evidence for this homozygous state is extremely limited due to its rarity in the general population, and it should not be taken as a medical diagnosis.
Extremely rare worldwide, occurring in far fewer than 1 in 100,000 individuals in large reference datasets such as gnomAD.
Minor allele frequency < 0.1% globally in gnomAD; enriched in European AMD cohorts.
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