CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Disease: Age related macular degeneration ×
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.840 0.875 8 2010 2019
dbSNP: rs141853578
rs141853578 		0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.750 1.000 6 2013 2019
dbSNP: rs1435946585
rs1435946585 		1.000 0.040 4 109761597 missense variant A/G snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1486838526
rs1486838526 		1.000 0.040 4 109764627 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017