Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2017 2017
dbSNP: rs1191848415
rs1191848415
PROC ; LOC105373608
3 0.882 0.120 2 127428608 stop gained A/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 2017