rs141853578
A SNP in the CFI gene on chromosome 4. Its most notable genotype is C;T: Possibly: somewhat higher risk for age-related macular degeneration
- Gene
- CFI
- Location
- Chr 4109,764,664 (GRCh38)
- Highest magnitude
- 3.9Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- C;TMost notableBadPossibly: somewhat higher risk for age-related macular degeneration
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Show notes, about 140 words
c.355G>A, p.Gly119Arg, G119R This 2013 publication reports that rs141853578(T) is a rare, highly penetrant dominantly inherited missense mutation in the CFI gene conferring high risk for age-related macular degeneration (ARMD); (p = 3.79 × 10e-6; odds ratio 22.2, CI: 2.98-164.49). More recent publications appear to be coming to a different consensus about this variant - namely, that it is more prevalent than thought, and, that it is less penetrant (i.e. if it raises ARMD risk at all, it's to a lesser degree than initially reported in 2013). For example: * Odds ratio of 8.47 (CI: 1.04-69.00, p = 0.027) reported for a UK Caucasian cohort * Odds ratio of 2.6 reported for an American cohort * ClinVar's single submitter now annotates this as a variant of uncertain significance
C;T
see discussion at rs141853578
Source and license
Adapted from rs141853578 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.