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: rs121913051
rs121913051
CFH
1 1.000 1 196747260 stop gained C/G;T snv 0.800 1.000 2 2009 2010
dbSNP: rs121913055
rs121913055
CFH
1 1.000 1 196747183 missense variant T/G snv 0.800 1.000 2 2009 2010
dbSNP: rs460897
rs460897
CFH
2 0.925 0.120 1 196747189 missense variant C/T snv 0.800 1.000 2 2009 2010
dbSNP: rs1391815797
rs1391815797
CFH
1 1.000 1 196726614 missense variant G/A snv 0.700 1.000 8 1998 2010
dbSNP: rs145975787
rs145975787
CFH
1 1.000 1 196740703 missense variant C/T snv 1.3E-03 1.3E-03 0.700 1.000 8 1998 2010
dbSNP: rs761877050
rs761877050
CFH
1 1.000 1 196747198 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 8 1998 2010
dbSNP: rs762443267
rs762443267
CFH
1 1.000 1 196736958 missense variant G/A snv 4.0E-06 0.700 1.000 8 1998 2010
dbSNP: rs777049051
rs777049051
CFH
1 1.000 1 196740687 missense variant T/C snv 1.2E-05 2.1E-05 0.700 1.000 8 1998 2010
dbSNP: rs460184
rs460184
CFH
2 0.925 0.120 1 196747207 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 2 2009 2010
dbSNP: rs1131690796
rs1131690796
CFH
1 1.000 1 196728506 frameshift variant A/- del 0.700 0
dbSNP: rs121913057
rs121913057
CFH
1 1.000 1 196737575 stop gained T/A;C snv 1.6E-05 0.700 0
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 0
dbSNP: rs121913060
rs121913060
CFH
2 0.925 0.120 1 196747131 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs121913063
rs121913063
CFH
2 0.925 0.120 1 196747209 stop gained G/T snv 0.700 0
dbSNP: rs148165372
rs148165372
CFH
1 1.000 1 196725249 missense variant G/A snv 2.8E-04 4.1E-04 0.700 0
dbSNP: rs149474608
rs149474608
CFH
2 0.925 0.120 1 196740686 missense variant G/A;T snv 8.0E-06; 3.9E-03 0.700 0
dbSNP: rs1553270437
rs1553270437
CFH
1 1.000 1 196652175 missense variant G/A snv 0.700 0
dbSNP: rs1553273733
rs1553273733
CFH
1 1.000 1 196679712 frameshift variant GT/- delins 0.700 0
dbSNP: rs1558162157
rs1558162157
CFH
1 1.000 1 196690221 frameshift variant CCCAGATGCA/- del 0.700 0
dbSNP: rs201671665
rs201671665
CFH
1 1.000 1 196690101 missense variant C/A snv 1.0E-04 1.9E-04 0.700 0
dbSNP: rs796052136
rs796052136
CFH
1 1.000 1 196747291 stop lost CAACTTGTGCAAAAAGATAGAATC/- delins 0.700 0
dbSNP: rs796052137
rs796052137
CFH
1 1.000 1 196673000 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs869312973
rs869312973
1 1.000 12 8059829 frameshift variant -/TC delins 0.700 0
dbSNP: rs886039869
rs886039869
CFH
1 1.000 1 196740786 missense variant T/C;G snv 4.0E-06 0.700 0