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: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2009 2009
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2015 2015
dbSNP: rs12085435
rs12085435
C8B
2 1.000 0.040 1 56949637 missense variant G/A snv 4.8E-02 5.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs3753396
rs3753396
CFH
2 0.925 0.080 1 196726612 synonymous variant A/G snv 0.20 0.15 0.010 1.000 1 2015 2015
dbSNP: rs426736
rs426736
CFHR3
2 1.000 0.040 1 196791287 intron variant A/G snv 0.28 0.010 1.000 1 2015 2015