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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121909585
rs121909585
C3
4 0.925 0.120 19 6692971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs3092936
rs3092936
2 1.000 0.040 X 136654046 intron variant T/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs3092952
rs3092952
3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
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
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2009 2009