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: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.720 1.000 2 2007 2012
dbSNP: rs121913061
rs121913061
CFH
1 1.000 0.080 1 196690125 stop gained C/T snv 0.700 0
dbSNP: rs121913062
rs121913062
CFH
1 1.000 0.080 1 196743552 missense variant G/T snv 6.8E-05 4.2E-05 0.700 0
dbSNP: rs387906550
rs387906550
CFH
1 1.000 0.080 1 196673968 splice region variant T/G snv 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 0.010 1.000 1 2015 2015