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: rs121913059
rs121913059
0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
0.010 1.000 1 2016 2016