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: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2020 2020
dbSNP: rs121918667
rs121918667
THBD
2 0.925 0.080 20 23049347 missense variant T/C snv 8.8E-06 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2020 2020
dbSNP: rs778038385
rs778038385
THBD
1 1.000 0.080 20 23049344 missense variant C/G snv 8.8E-06 0.010 1.000 1 2020 2020