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: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.800 0
dbSNP: rs575109631
rs575109631
CFH
2 0.925 0.200 1 196745862 missense variant A/G snv 4.0E-06 0.700 1.000 8 1997 2006
dbSNP: rs62625015
rs62625015
CFH
1 1.000 0.160 1 196743544 missense variant C/G snv 3.9E-04 2.4E-04 0.700 1.000 8 1997 2006
dbSNP: rs121913052
rs121913052
CFH
1 1.000 0.160 1 196715679 missense variant T/C snv 0.700 0
dbSNP: rs121913053
rs121913053
CFH
1 1.000 0.160 1 196740712 missense variant G/A snv 0.700 0
dbSNP: rs121913054
rs121913054
CFH
1 1.000 0.160 1 196677613 stop gained G/A;T snv 2.0E-05 0.700 0
dbSNP: rs121913056
rs121913056
CFH
1 1.000 0.160 1 196690194 missense variant T/A;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913058
rs121913058
CFH
2 0.925 0.200 1 196676018 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs796052138
rs796052138
CFH
1 1.000 0.160 1 196679671 inframe deletion AGA/- delins 0.700 0