CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
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: rs1065489
rs1065489
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs800292
rs800292
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis
Eye Diseases 0.010 1.000 1 2012 2012