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: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2011 2017
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2020 2020
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 < 0.001 1 2011 2011