CFI

is a	gene
is	mentioned by
ClinVar	CFI
GeneCards	CFI
Diseases	CFI
wikipedia	CFI
google	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