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CFI

From SNPedia
is agene
is mentioned by
ClinVarCFI
GeneCardsCFI
DiseasesCFI
wikipediaCFI
googleCFI
gopubmedCFI
EVSCFI
HEFalMpCFI
MyGene2CFI
23andMeCFI
# SNPs21
 Max MagnitudeChromosome positionSummary
rs10033900109,737,911
rs1125345240109,760,371
rs1219649120109,746,398
rs1219649130109,746,231
rs121964914109,741,074
rs121964915109,741,008
rs1219649160109,760,567
rs121964917109,749,594
rs121964918109,741,090
rs13117504109,737,700
rs1418535785.4109,764,664
rs6822976109,745,136
rs754851037109,746,309
rs754922990109,760,283
rs7580490590109,746,473
rs7671905109,801,730
rs7720441760109,764,567
rs773187287109,766,691
rs778646549109,757,763
rs8860434180109,766,801
rs910978973109,764,646

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 28282489OA-icon.png] 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: