CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10033900
rs10033900
0.807 0.040 4 109737911 intron variant T/C snv 0.54
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
Eye Diseases 0.700 1.000 2 2012 2016
dbSNP: rs141853578
rs141853578
0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
Eye Diseases 0.700 1.000 1 2016 2016