CFI
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | CFI |
| GeneCards | CFI |
| Diseases | CFI |
| wikipedia | CFI |
| CFI | |
| gopubmed | CFI |
| EVS | CFI |
| HEFalMp | CFI |
| MyGene2 | CFI |
| 23andMe | CFI |
| # SNPs | 21 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10033900 | 0 | 109,737,911 | |
| rs112534524 | 0 | 109,760,371 | |
| rs121964912 | 0 | 109,746,398 | |
| rs121964913 | 0 | 109,746,231 | |
| rs121964914 | 0 | 109,741,074 | |
| rs121964915 | 0 | 109,741,008 | |
| rs121964916 | 0 | 109,760,567 | |
| rs121964917 | 0 | 109,749,594 | |
| rs121964918 | 0 | 109,741,090 | |
| rs13117504 | 0 | 109,737,700 | |
| rs141853578 | 3.9 | 109,764,664 | |
| rs6822976 | 0 | 109,745,136 | |
| rs754851037 | 0 | 109,746,309 | |
| rs754922990 | 0 | 109,760,283 | |
| rs758049059 | 0 | 109,746,473 | |
| rs7671905 | 0 | 109,801,730 | |
| rs772044176 | 0 | 109,764,567 | |
| rs773187287 | 0 | 109,766,691 | |
| rs778646549 | 0 | 109,757,763 | |
| rs886043418 | 0 | 109,766,801 | |
| rs910978973 | 0 | 109,764,646 |
The CFI gene on chromosome 4 encodes a complement factor I, a serine protease.
Dominantly inherited mutations in the CFI gene have been reported to lead to age-related macular degeneration (ARMD), while recessively inherited mutations can lead to complement factor I deficiency.
[PMID 28282489
] A 2017 functional study listed the following CFI mutations (all but one of which are very rare) as likely to lead to age-related macular generation:
- rs141853578: G119R (previously reported)
- rs773187287: P64L
- rs910978973: G125R
- D249E
- rs754922990: E290D
- rs778646549: E303K
- E305X
- rs754851037: R448C
